Clinical features and genetic characteristics of ovotesticular disorders of sex development - 24 cases from a single center

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METHODS: Inclusion criteria: 1. Children with disorders of sex development who were hospitalized for surgery in the Department of Urology of Guangzhou Women and Children's Medical Center from 2015 to 2021; 2. Pathologic results suggesting ovotesticular disorders of sex development; 3. Genetic test results were available. Exclusion criteria: incomplete basic clinical information. The basic clinical information required includes: 1. Age and sex at first diagnosis; 2. Physical examination of external genitalia; 3. Ultrasound or MRI results; 4. chromosome examination. Results:1.A total of 24 children were included in the study;2. The age ranged from 6 months to 10 years, with a mean age of 30.5 months;3. The preoperative sex ratio of male to female was 13 to 11;4. Twenty-two cases complained of ambiguity of the external genitalia, one was found to have inguinal mass in a girl, and one was found to have breast development in a boy; 5. Mean prader grade was three grade; 6. The chromosome results of the children were 46, XX in 18 cases (75.0%), chimerism in five cases (20.8%), and 46, XY in one case (4.2%); 7. Two cases were SF-1 heterozygous mutations (8.3%), and the rest did not have a clear pathogenic mutation or without genetic examination. 8. Nineteen cases underwent vulvar surgery, two of them underwent gender reassignment surgery and the rest did not change sex. Five cases did not undergo surgery due to undecided sex. Among the 19 cases who underwent surgery, there were no serious complications in female caregivers (0/8), and two cases of recurrent urethral fistula in male caregivers (2/11, 18.2%). Conclusion: The clinical features of ovotesticular disorders of sex development are diverse and the phenotypic spectrum is extremely broad, and it is difficult to detect the causative mutation by single gene testing. The composition of gonads cannot be inferred only from appearance. In order to avoid missed diagnosis, biopsies should be taken as deep as possible while preserving most of the gonads, and the upper and lower poles of the gonads should be taken. The selection of the gonads and the sex of the gonads is important and complex, and should be made after Multi-Disciplinary Treatment and in accordance with the wishes of the family. Long-term follow-up for risk of malignancy is warranted in all cases where gonadal selection cannot be determined or where the choice is made to retain the opposite gonad chromosomal. ovotesticular disorders of sex development clinical features genetic characteristics Figures Figure 1 Figure 2 Background Disorders of sex development (DSD), previously known as hermaphroditism, have been renamed for humanitarian reasons since the Chicago Consensus Conference in 2005[ 1 ]. Currently, DSD are categorized into three main groups, namely 46, XY DSD, 46, XX DSD, and chromosomal DSD, based on the chromosomal karyotype of the child, and several subgroups based on the etiology of the disorders[ 2 ]. One of the more specific types is ovotesticular disorders of sex development (OT-DSD), previously known as true hermaphroditism, a type of DSD that can occur in all three categories, accounts for approximately 5 ~ 10% of all DSD[ 3 – 5 ]. In OT-DSD, both gonads (testes and ovaries) are present in a single individual. This may be manifested as testes on one side of the gonad and ovaries on the other, or testes and ovaries located on the same side of the gonad[ 6 , 7 ]. The clinical phenotype of the child is extremely complex, leading to a very difficult choice of sex and an uncertain prognosis, and is a current focus of pediatric urology and endocrinology, as well as psychosocial scientists[ 8 ]. The aim of this study was to understand the clinical phenotype and genetic characteristics of children with OT-DSD of different etiologies, in the hope of helping to personalize clinical decisions. Materials and methods Information about the child A retrospective analysis of 24 children with DSD who were hospitalized for surgery in the Department of Urology at Guangzhou Women and Children's Medical Center from 2015 to 2021, all of whom were suggested to have OT-DSD by pathological results. Chromosome test and gene test All children completed chromosomal testing before surgery, and some of them had additional single gene tests, such as SRY, AIS, 5aSRD5A2, NR5A1, etc., and some of them had Whole Exome Sequencing (WES). Other clinical information Includes physical examination (primarily external genitalia examination and Prader grade), sex hormone testing, and gonadal ultrasound or MRI results. Multi-Disciplinary Treatment (MDT) We have organized a Multi-Disciplinary Treatment for DSD since 2018 with senior specialists from Endocrinology, Pathology, Genetic Metabolism and Urology, with the aim to help in gonadal selection and precise personalized treatment of children with DSD. Therefore, MDT were performed for all children admitted after 2018, and some of the children who underwent surgery prior to 2018 also had an MDT discussion when they returned to the hospital for review. Surgery and pathology All enrolled children underwent gonadal exploration surgery and completed bilateral gonadal biopsies, some of them decided their final sex after Multi-Disciplinary Treatment or discussion with their families and underwent corresponding vginoplasty or palloplasty, and some of them are in long-term follow-up. Results Twenty-four children were included in the study. The age ranged from 6 months to 10 years, with a mean age of 30.5 months. The preoperative sex ratio of male to female was 13 to 11. Twenty-two cases complained of ambiguous external genitalia, one girl was found to have inguinal mass, and one boy was found to have breast development. The mean prader grade was three grade. Eighteen cases were 46, XX (75.0%), five cases were chimeric (20.8%), one case was 46, XY (4.2%). Two cases were SF-1 heterozygous mutations (8.3%), and the rest did not have a clear pathogenic mutation (Table 1 ). Table 1 Preoperative clinical characteristics of 24 children with OT-DSD ID Initial Diagnosis Age (Months) Initial Diagnosis Gender Main Manifestation Family History Prader Score MRI Ultrasound Karyotype Single Gene Test Whole Exome Sequencing 1 24 Female Ambiguous genitalia No special 3 Not done Pelvic right mixed echo, ovary? Visible uterus 46,XX SRY- No pathogenic mutation found 2 33 Female Ambiguous genitalia No special 3 Not done Bilateral cryptorchidism 46,XX SRY- No pathogenic mutation found 3 11 Female Ambiguous genitalia No special 2 Not done Visible underdeveloped uterus, left ovary, no obvious testis in inguinal 46,XX SRY- NR5A1 heterozygous mutation (c.776C > T p.P259), from father 4 15 Male Ambiguous genitalia No special 4 Not done Left cryptorchidism inguinal type 46,XX(78)/46,XY(22) SRY+, AIS, 5aSRD5A2 no abnormalities Not done 5 6 Male Ambiguous genitalia No special 4 Not done Left cryptorchidism inguinal type, no uterus, ovary 46,XX SRY- No pathogenic mutation found 6 18 Female Ambiguous genitalia No special 2 Bladder posterior visible uterus signal, bilateral ovaries not displayed, left inguinal abnormal signal, consider cryptorchidism Left inguinal testicular-like echo, uterus visible 46,XX SRY- No pathogenic mutation found 7 14 Female Ambiguous genitalia No special 3 Not done Pelvic no clear uterus or ovaries. Left testicular hydrocele, right testis not mentioned. 46,XX SRY- No pathogenic mutation found 8 12 Male Ambiguous genitalia No special 4 Not done Uterus underdeveloped, visible vagina, right adnexal area consider ovary (follicles visible) 45,X(6)/46,XY(94) SRY+, AIS, 5aSRD5A2 no abnormalities Not done 9 120 Male Gynecomastia No special 4 Not done Uterus underdeveloped. Right testis normal size, uneven echo. Left testis not detected. 46,XX[53]/46,XY[47] SRY+, AIS, 5aSRD5A2 no abnormalities Not done 10 13 Female Ambiguous genitalia No special 3 Not done Bilateral cryptorchidism (inguinal type), uterus underdeveloped. 46,XX SRY-, AIS, 5aSRD5A2 no abnormalities, NR5A1 gene found c.274C > T (p.R92W) heterozygous mutation Not done 11 13 Male Ambiguous genitalia No special 4 Not done Uterus underdeveloped, right cryptorchidism. Left inguinal area abnormal echo, gonadal tissue? 46,XX[29]/46,XY[71] SRY+, AIS, 5aSRD5A2 no abnormalities No pathogenic mutation found 12 36 Male Ambiguous genitalia No special 4 Not done Bilateral cryptorchidism 46,XY Not done Not done 13 20 Male Ambiguous genitalia No special 4 Not done Left cryptorchidism 46,XX SRY-, AIS, 5aSRD5A2 no abnormalities Not done 14 13 Male Ambiguous genitalia No special 3 Not done Left cryptorchidism (abdominal type). Left inguinal oblique hernia, hernia content is omentum majus. 46,XX SRY-, AIS, 5aSRD5A2 no abnormalities Not done 15 15 Female Ambiguous genitalia No special 4 Pelvic abnormal signal behind bladder, consider immature uterus, no ovaries displayed; buried penis, bilateral inguinal testes visible, consider intersex, please combine chromosome examination analysis Uterus underdeveloped. Bilateral ovaries unclear. 46,XX SRY- Not done 16 36 Female Ambiguous genitalia No special 2 Pelvic abnormal signal behind bladder, consider immature uterus, no ovaries displayed; buried penis, right inguinal testicular-like echo. Bladder posterior uterus-like low echo. Bilateral ovaries not detected. Right inguinal upper segment testicular-like tissue echo. 46,XX SRY- Not done 17 36 Female Ambiguous genitalia No special 2 1.Left para-aortic obscure nodule in front of common iliac artery, suggest DWI imaging to exclude cryptorchidism possibility; 2.Bilateral inguinal sac-like shadow, consider unclosed processus vaginalis. Uterus underdeveloped. Right inguinal area testicular-like echo. 46,XX SRY- Not done 18 60 Female Ambiguous genitalia No special 1 Uterus underdeveloped Uterus underdeveloped. Left ovary small follicles. 46,XX SRY- Not done 19 36 Male Ambiguous genitalia No special 3 Not done Bilateral cryptorchidism. Abnormal echo behind bladder, consider uterus? Abnormal echo below uterus, consider vaginal atresia and cervical vaginal fluid accumulation possibility. No space-occupying lesions in bilateral adrenal area. 46,XX SRY- Not done 20 13 Male Ambiguous genitalia No special 4 Left testis not displayed Primitive uterus? Pelvic left anechoic area − 1, ureteral lower segment dilatation? 2, vaginal fluid accumulation? Other not ruled out. Suggest re-examination. 46,XX SRY- Not done 21 48 Male Ambiguous genitalia No special 4 Not done Bilateral wandering testes 46,XX Not done Not done 22 24 Male Ambiguous genitalia No special 4 Bladder posterior small cystic shadow Bladder posterior cystic mass, residual Müllerian duct? Pelvic no clear uterus, ovarian tissue. Left inguinal cryptorchidism (inguinal type); right indirect inguinal hernia and cryptorchidism. 46,XX SRY- Not done 23 96 Female Found inguinal mass No special 1 Not done Uterus thin. No testis echo 45,X(12)/46,XY(88) SRY+, 5aSRD5A2 no abnormalities Not done 24 19 Male Ambiguous genitalia No special 4 Not done Left cryptorchidism (inguinal type) with hydrocele. Right testis no obvious abnormality. 46,XX SRY-, 5aSRD5A2 no abnormalities Not done The biopsy results showed that there were 19 ovaries in 48 gonads (39.6%), including 13 on the left and six on the right. There are 14 testicles (29.2%), including five on the left and nine on the right. There are 15 ovotesticular gonads (31.2%), including six on the left and nine on the right. Nineteen cases underwent vulvar surgery, two of them underwent gender reassignment surgery and the rest did not change sex. Five cases did not undergo surgery due to undecided sex. Among the 19 cases who underwent surgery, there were no serious complications in female caregivers (0/8), and two cases of recurrent urethral fistula in male caregivers (2/11, 18.2%)(Table 2 ). Table 2 Surgery, pathology and follow-up of 24 children with ovotesticular DSD ID Initial Diagnosis Gender Gonads: Left Gonads: Right Müllerian Duct Manifestation Assigned Gender External Genital Surgery Postoperative Complications 1 Female Ovotesticular Ovotesticular Uterus and vagina present Female None None 2 Female Ovary Ovotesticular Uterus and vagina present Female Clitoroplasty + Right Gonadectomy Incision infection 3 Female Ovary Testis Uterus and vagina present Female None None 4 Male Ovary Testis Prostatic utricle Male Hypospadias repair + Left Gonadectomy Urethral fistula 5 Male Ovary Ovotesticular Prostatic utricle Female Clitoroplasty + Right Gonadectomy None 6 Female Ovotesticular Ovary Uterus and vagina present Female Clitoroplasty + Left Gonadectomy None 7 Female Ovotesticular Ovary No uterus or vagina Female None None 8 Male Ovotesticular Testis Uterus and vagina present Male Hypospadias repair + Left Gonadectomy + Uterus and vagina removal Urethral fistula 9 Male Ovary Ovotesticular Uterus and vagina present Male Hypospadias repair + Removal of uterus and ovarian components Lost to follow-up 10 Female Ovotesticular Testis Vagina present, uterus absent Female None None 11 Male Ovary Testis Prostatic utricle Male Hypospadias repair + Left Gonadectomy Recurrent urethral fistula(> 3) 12 Male Testis Ovary Uterus and vagina present Male Hypospadias repair + Right Gonadectomy Recurrent urethral fistula(> 3) 13 Male Ovary Testis Regression Male Hypospadias repair + Left Gonadectomy None 14 Male Ovary Ovotesticular Uterus and vagina present Male Hypospadias repair + Left Gonadectomy + Uterus and vagina removal Urethral fistula 15 Female Testis Ovotesticular Vagina present, uterus absent Female None None 16 Female Ovary Ovotesticular Uterus and vagina present Female Clitoroplasty + Right Gonadectomy None 17 Female Ovary Testis No uterus or vagina Female Clitoroplasty + Right Gonadectomy None 18 Female Ovary Testis Uterus and vagina present Female Clitoroplasty + Right Gonadectomy None 19 Male Ovotesticular Ovary Uterus and vagina present Male Hypospadias repair + Bilateral Gonadectomy Urethral fistula 20 Male Ovary Testis Regression Male Hypospadias repair + Left Gonadectomy None 21 Male Testis Ovotesticular Regression Male Hypospadias repair + Right Gonadectomy None 22 Male Testis Ovary Uterus and vagina present Female Clitoroplasty + Left Gonadectomy None 23 Female Testis Ovary Uterus and vagina present Female Clitoroplasty + Left Gonadectomy Hormone replacement 24 Male Ovary Ovotesticular Regression Male Hypospadias repair + Left Gonadectomy Postoperative urinary incontinence, currently improved In the gonadal biopsy results of a patient, we observed that the same gonad can simultaneously exhibit two distinct types of gonadal tissue, characterized by ovarian tissue in the superficial layer and testicular tissue in the deeper layer (Fig. 1 ). During the biopsy process of a patient, it was difficult to determine the composition of the gonads from the appearance. The lower pole resembled the testicular tissue, but the biopsy results showed the superficial layer was ovarian tissue and deep layer was testicular tissue, which meaned ovotesticular gonad. The upper pole was very similar to the ovary, but the actual biopsy showed testicular tissue (Fig. 2 ). Discussion DSD is a complex clinical problem due to the complexity of the pathogenesis and the wide spectrum of clinical phenotypes. The shift from the previous term “hermaphroditism” to the current term “disorders of sex development” or “abnormalities of sexual differentiation” illustrates the gradual development of medical professionals' understanding of the condition [ 4 ]. Research has demonstrated that multiple factors are involved in determining the final phenotype[ 9 ]. However, even with genome-wide testing, only 50% of the causes of the disease can be detected[ 10 , 11 ]. This may be due to the lack of awareness and misdiagnosis of the disease by some primary health care providers, and further suggests that the environment or other external factors may affect sex development through non-gene editing and ultimately lead to disorders of sex development. OT-DSD is a common phenotype, and as mentioned earlier, all three chromosomal karyotypes can present with OT-DSD. Often, the external genitalia phenotype of children with OT-DSD is more complex, e.g., a boy with hypospadias is routinely chromosomally tested and found to be 46, XX, or a girl with clitoral hypertrophy (P1) may be found to have a Y chromosome due to occasional chromosomal testing, and further testing reveals ovotesticular disorders, and so on. The present study aligns with previous research in finding that 46, XX OT-DSD constitutes the most prevalent subtype (75.0%). Among these, specific pathogenic causes were identified in 2/18 cases, both attributed to SF-1 gene mutations. Other chromosomal patterns included 46, XX/46, XY mosaicism (12.5%), 45, X/46, XY mosaicism (8.3%), and one 46, XY case (4.2%)[ 12 ]. Current clinical consensus mandates gonadal biopsy for all patients with mosaic chromosomal abnormalities, which enhances diagnostic sensitivity for mosaic-type OT-DSD. However, diagnostic challenges persist in 46, XX and 46, XY DSD cases where gonadal biopsies are not routinely performed, potentially leading to underdiagnosis. Due to historical limitations in diagnostic approaches, most patients underwent single-gene testing rather than comprehensive genetic evaluation. Consequently, definitive etiological determination was achieved in only 29.2% of cases (genetic or chromosomal abnormalities). While WES and whole genome sequencing (WGS) can improve diagnostic rate, their prohibitive cost precludes their use as first-line tests. We suggest using these advanced genetic analysis techniques for the etiological diagnosis of cases with unknown causes, or to assist the families of OT-DSD children in guiding future fertility plans. It is crucial to emphasize that even with gonadal biopsy, misdiagnosis remains possible. Most ovotesticular gonads can be distinguished by the naked eye or exhibit distinct boundaries in one gonad[ 13 ]. However, two exceptional scenarios warrant attention. Firstly, in underdeveloped gonads, superficial sampling may yield ovarian-like cortical tissue while deeper seminiferous tubules remain undetected (Fig. 1 ). Superficial biopsies in such cases risk misclassification as pure ovarian tissue. Secondly, some gonads display uniform macroscopic morphology (ovary- or testis-like) without discernible boundaries, yet histopathology confirms ovotesticular composition (Fig. 2 ). Limited sampling (single-site or partial biopsies) increases misdiagnosis. To mitigate these risks, we suggest that surgeons should obtain sufficiently deep tissue samples while preserving gonadal integrity and routinely submit specimens from both superior and inferior poles, regardless of gross morphology. There is still controversy over whether the gonads of children with OT-DSD should be preserved. Although some experts advocate preventive gonadectomy to reduce the risk of malignant transformation of underdeveloped gonads, the latest endocrine consensus suggests that Leydig cells can convert androstenedione into estrogen[ 14 , 15 ]. Therefore, for OT-DSD children raised in girls, we recommend retaining the testicular tissue until puberty. However, for individuals with 46, XY OT-DSD, early resection is generally recommended due to increased carcinogenic potential[ 16 , 17 ]. All patients with preserved gonads require regular ultrasound examinations. Follow-up data from 19 cases underwent vulvar surgery revealed that 8 female-raised cases underwent reductive clitoroplasty without significant complications. Notably, vaginoplasty was deferred in cases with complete vaginal agenesis, necessitating extended follow-up until adulthood to assess outcomes. And male-raised cases demonstrated increased urethral fistula incidence, which may correlate with the complex urethral reconstruction required in severe perineal hypospadias cases. Conclusion OT-DSD belongs to a type of DSD with relatively clear pathological diagnosis, but more complex etiology and less clear prognosis. On the one hand, clinical doctors need to identify the possibility of ovotesticular gonads in children with external genitalia as early as possible. Biopsy needs to be as complete as possible, and based on the biopsy results, MDT consultations and family members should be organized to jointly develop a diagnosis and treatment plan, including whether further genetic testing is needed and the selection of gonads and gender. Declarations Author contributions Dian Li: protocol/project development, methodology, data collection, data analysis manuscript writing. Tianxin Zhao, Rui Zhou and Gaochen Bai: data collection. Wen Fu and Liyu Zhang: methodology, data analysis. Xiangliang Tang: project idea, protocol/project development, manuscript review, data collection, data analysis. Guochang Liu: manuscript review. Funding The study was provided by Guangzhou Health Science and Technology General Guidance Project (No. 20231A010025) and Internal Fund of Guangzhou Women and Children's Medical Center (No. GWCMC2020-4-011). Availability of data and material All raw data were generated at the Department of Pediatric Urology, Women and Children's Medical Center Affiliated to Guangzhou Medical University. Declarations Conflict of interest All authors certify that they have no financial and/or personal relationship with any person or organization that could have inappropriately influenced their work. The authors declare no conflicts of interest. Ethics approval and consent The institutional review board approved this study. All patients have signed informed consent forms to participate in this study and we can provide evidence Consent for publication The final manuscript is approved for publication by all authors. References Jürgensen M, Rapp M, Döhnert U et al (2021) Assessing the health-related management of people with differences of sex development. 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Urol Case Rep 53:102680 Published 2024 Feb 14. 10.1016/j.eucr.2024.102680 Additional Declarations No competing interests reported. Cite Share Download PDF Status: Published Journal Publication published 17 Dec, 2025 Read the published version in World Journal of Urology → Version 1 posted Editorial decision: Revision requested 05 Aug, 2025 Reviews received at journal 30 Jun, 2025 Reviewers agreed at journal 17 Jun, 2025 Reviewers invited by journal 16 Jun, 2025 Editor assigned by journal 14 Jun, 2025 Submission checks completed at journal 14 Jun, 2025 First submitted to journal 12 Jun, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-6880625","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":473283400,"identity":"5edb8628-b9af-4762-b5fa-18de1b1d521b","order_by":0,"name":"Dian Li","email":"","orcid":"","institution":"Women and Children's Medical Center Affiliated to Guangzhou Medical University","correspondingAuthor":false,"prefix":"","firstName":"Dian","middleName":"","lastName":"Li","suffix":""},{"id":473283401,"identity":"3b1ef935-fa6e-4657-9d5c-580d2059e396","order_by":1,"name":"Xiangliang Tang","email":"data:image/png;base64,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","orcid":"","institution":"Women and Children's Medical Center Affiliated to Guangzhou Medical University","correspondingAuthor":true,"prefix":"","firstName":"Xiangliang","middleName":"","lastName":"Tang","suffix":""},{"id":473283402,"identity":"3f16d19b-cd43-47e6-854c-be9d458d2f20","order_by":2,"name":"Tianxin Zhao","email":"","orcid":"","institution":"Women and Children's Medical Center Affiliated to Guangzhou Medical University","correspondingAuthor":false,"prefix":"","firstName":"Tianxin","middleName":"","lastName":"Zhao","suffix":""},{"id":473283403,"identity":"1e09eca7-46bb-4a0a-8650-0462c1a585ae","order_by":3,"name":"Gaochen Bai","email":"","orcid":"","institution":"Women and Children's Medical Center Affiliated to Guangzhou Medical University","correspondingAuthor":false,"prefix":"","firstName":"Gaochen","middleName":"","lastName":"Bai","suffix":""},{"id":473283404,"identity":"156181fe-1c47-42f5-a69a-cca5842c61c8","order_by":4,"name":"Rui Zhou","email":"","orcid":"","institution":"Women and Children's Medical Center Affiliated to Guangzhou Medical University","correspondingAuthor":false,"prefix":"","firstName":"Rui","middleName":"","lastName":"Zhou","suffix":""},{"id":473283405,"identity":"7d6b5c4e-b975-45c9-94cd-a43c0d6b20fc","order_by":5,"name":"Wen Fu","email":"","orcid":"","institution":"Women and Children's Medical Center Affiliated to Guangzhou Medical University","correspondingAuthor":false,"prefix":"","firstName":"Wen","middleName":"","lastName":"Fu","suffix":""},{"id":473283406,"identity":"ca4f7168-5441-463c-b4f8-d3588db0b5d1","order_by":6,"name":"Liyu Zhang","email":"","orcid":"","institution":"Women and Children's Medical Center Affiliated to Guangzhou Medical University","correspondingAuthor":false,"prefix":"","firstName":"Liyu","middleName":"","lastName":"Zhang","suffix":""},{"id":473283407,"identity":"f9ea621b-4f58-4a34-bef6-c09fbefbccef","order_by":7,"name":"Guochang Liu","email":"","orcid":"","institution":"Women and Children's Medical Center Affiliated to Guangzhou Medical University","correspondingAuthor":false,"prefix":"","firstName":"Guochang","middleName":"","lastName":"Liu","suffix":""}],"badges":[],"createdAt":"2025-06-12 13:08:15","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-6880625/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-6880625/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1007/s00345-025-06143-w","type":"published","date":"2025-12-17T15:58:17+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":85362210,"identity":"3c8b7b07-7af2-4bd2-bee7-d6d1f1871c02","added_by":"auto","created_at":"2025-06-25 06:17:42","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":250634,"visible":true,"origin":"","legend":"\u003cp\u003ePathological manifestations at different depths in a gonadal tissue\u003c/p\u003e\n\u003cp\u003eThe solid arrow represents the ovarian tissue, which contains follicles on the surface layer. The dashed arrow represents the testicular tissue, which contain seminiferous tubules and are located in deep layer.\u003c/p\u003e","description":"","filename":"floatimage1.png","url":"https://assets-eu.researchsquare.com/files/rs-6880625/v1/8e87ec5a56969807ba307802.png"},{"id":85362214,"identity":"83204168-d117-4df4-a138-9574de6d7190","added_by":"auto","created_at":"2025-06-25 06:17:42","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":394921,"visible":true,"origin":"","legend":"\u003cp\u003eDistinctions in the gross appearance and pathology of gonadal tissues\u003c/p\u003e\n\u003cp\u003eA. The gross appearance of the gonad, with the dashed line indicating the lower pole and the solid line indicating the upper pole. B. The histological examination of the lower pole of this gonad. The solid arrow represents the ovarian tissue, which contains follicles on the surface layer. The dashed arrow represents the testicular tissue, which contain seminiferous tubules and are located in deep layer.\u003c/p\u003e","description":"","filename":"floatimage2.png","url":"https://assets-eu.researchsquare.com/files/rs-6880625/v1/52ec3b2225c5bd6faf52f187.png"},{"id":98815626,"identity":"75049cf9-0bc7-407a-a0b9-267c308a4fdc","added_by":"auto","created_at":"2025-12-22 16:14:56","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1511101,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6880625/v1/409b927d-a8bd-41e2-bdc7-c62039fa6512.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Clinical features and genetic characteristics of ovotesticular disorders of sex development - 24 cases from a single center","fulltext":[{"header":"Background","content":"\u003cp\u003eDisorders of sex development (DSD), previously known as hermaphroditism, have been renamed for humanitarian reasons since the Chicago Consensus Conference in 2005[\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]. Currently, DSD are categorized into three main groups, namely 46, XY DSD, 46, XX DSD, and chromosomal DSD, based on the chromosomal karyotype of the child, and several subgroups based on the etiology of the disorders[\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]. One of the more specific types is ovotesticular disorders of sex development (OT-DSD), previously known as true hermaphroditism, a type of DSD that can occur in all three categories, accounts for approximately 5\u0026thinsp;~\u0026thinsp;10% of all DSD[\u003cspan additionalcitationids=\"CR4\" citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eIn OT-DSD, both gonads (testes and ovaries) are present in a single individual. This may be manifested as testes on one side of the gonad and ovaries on the other, or testes and ovaries located on the same side of the gonad[\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e, \u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]. The clinical phenotype of the child is extremely complex, leading to a very difficult choice of sex and an uncertain prognosis, and is a current focus of pediatric urology and endocrinology, as well as psychosocial scientists[\u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eThe aim of this study was to understand the clinical phenotype and genetic characteristics of children with OT-DSD of different etiologies, in the hope of helping to personalize clinical decisions.\u003c/p\u003e"},{"header":"Materials and methods","content":"\u003cp\u003eInformation about the child\u003c/p\u003e \u003cp\u003eA retrospective analysis of 24 children with DSD who were hospitalized for surgery in the Department of Urology at Guangzhou Women and Children's Medical Center from 2015 to 2021, all of whom were suggested to have OT-DSD by pathological results.\u003c/p\u003e \u003cp\u003eChromosome test and gene test\u003c/p\u003e \u003cp\u003eAll children completed chromosomal testing before surgery, and some of them had additional single gene tests, such as SRY, AIS, 5aSRD5A2, NR5A1, etc., and some of them had Whole Exome Sequencing (WES).\u003c/p\u003e \u003cp\u003eOther clinical information\u003c/p\u003e \u003cp\u003eIncludes physical examination (primarily external genitalia examination and Prader grade), sex hormone testing, and gonadal ultrasound or MRI results.\u003c/p\u003e \u003cp\u003eMulti-Disciplinary Treatment (MDT)\u003c/p\u003e \u003cp\u003eWe have organized a Multi-Disciplinary Treatment for DSD since 2018 with senior specialists from Endocrinology, Pathology, Genetic Metabolism and Urology, with the aim to help in gonadal selection and precise personalized treatment of children with DSD. Therefore, MDT were performed for all children admitted after 2018, and some of the children who underwent surgery prior to 2018 also had an MDT discussion when they returned to the hospital for review.\u003c/p\u003e \u003cp\u003eSurgery and pathology\u003c/p\u003e \u003cp\u003eAll enrolled children underwent gonadal exploration surgery and completed bilateral gonadal biopsies, some of them decided their final sex after Multi-Disciplinary Treatment or discussion with their families and underwent corresponding vginoplasty or palloplasty, and some of them are in long-term follow-up.\u003c/p\u003e"},{"header":"Results","content":"\u003cp\u003eTwenty-four children were included in the study. The age ranged from 6 months to 10 years, with a mean age of 30.5 months. The preoperative sex ratio of male to female was 13 to 11. Twenty-two cases complained of ambiguous external genitalia, one girl was found to have inguinal mass, and one boy was found to have breast development. The mean prader grade was three grade. Eighteen cases were 46, XX (75.0%), five cases were chimeric (20.8%), one case was 46, XY (4.2%). Two cases were SF-1 heterozygous mutations (8.3%), and the rest did not have a clear pathogenic mutation (Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003ePreoperative clinical characteristics of 24 children with OT-DSD\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"11\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c6\" colnum=\"6\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c7\" colnum=\"7\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c8\" colnum=\"8\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c9\" colnum=\"9\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c10\" colnum=\"10\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c11\" colnum=\"11\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003eID\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eInitial Diagnosis Age (Months)\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eInitial Diagnosis Gender\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003eMain Manifestation\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c5\"\u003e \u003cp\u003eFamily History\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c6\"\u003e \u003cp\u003ePrader Score\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c7\"\u003e \u003cp\u003eMRI\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUltrasound\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c9\"\u003e \u003cp\u003eKaryotype\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSingle Gene Test\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c11\"\u003e \u003cp\u003eWhole Exome Sequencing\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e24\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003ePelvic right mixed echo, ovary? Visible uterus\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNo pathogenic mutation found\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e33\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eBilateral cryptorchidism\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNo pathogenic mutation found\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e11\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eVisible underdeveloped uterus, left ovary, no obvious testis in inguinal\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNR5A1 heterozygous mutation (c.776C\u0026thinsp;\u0026gt;\u0026thinsp;T p.P259), from father\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e15\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eLeft cryptorchidism inguinal type\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX(78)/46,XY(22)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY+, AIS, 5aSRD5A2 no abnormalities\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e6\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eLeft cryptorchidism inguinal type, no uterus, ovary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNo pathogenic mutation found\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e6\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e18\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eBladder posterior visible uterus signal, bilateral ovaries not displayed, left inguinal abnormal signal, consider cryptorchidism\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eLeft inguinal testicular-like echo, uterus visible\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNo pathogenic mutation found\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e7\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e14\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003ePelvic no clear uterus or ovaries. Left testicular hydrocele, right testis not mentioned.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNo pathogenic mutation found\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e12\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUterus underdeveloped, visible vagina, right adnexal area consider ovary (follicles visible)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e45,X(6)/46,XY(94)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY+, AIS, 5aSRD5A2 no abnormalities\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e9\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e120\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eGynecomastia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUterus underdeveloped. Right testis normal size, uneven echo. Left testis not detected.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX[53]/46,XY[47]\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY+, AIS, 5aSRD5A2 no abnormalities\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e10\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e13\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eBilateral cryptorchidism (inguinal type), uterus underdeveloped.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-, AIS, 5aSRD5A2 no abnormalities, NR5A1 gene found c.274C\u0026thinsp;\u0026gt;\u0026thinsp;T (p.R92W) heterozygous mutation\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e11\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e13\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUterus underdeveloped, right cryptorchidism. Left inguinal area abnormal echo, gonadal tissue?\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX[29]/46,XY[71]\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY+, AIS, 5aSRD5A2 no abnormalities\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNo pathogenic mutation found\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e12\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e36\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eBilateral cryptorchidism\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XY\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e13\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e20\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eLeft cryptorchidism\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-, AIS, 5aSRD5A2 no abnormalities\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e14\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e13\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eLeft cryptorchidism (abdominal type). Left inguinal oblique hernia, hernia content is omentum majus.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-, AIS, 5aSRD5A2 no abnormalities\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e15\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e15\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003ePelvic abnormal signal behind bladder, consider immature uterus, no ovaries displayed; buried penis, bilateral inguinal testes visible, consider intersex, please combine chromosome examination analysis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUterus underdeveloped. Bilateral ovaries unclear.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e16\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e36\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003ePelvic abnormal signal behind bladder, consider immature uterus, no ovaries displayed; buried penis, right inguinal testicular-like echo.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eBladder posterior uterus-like low echo. Bilateral ovaries not detected. Right inguinal upper segment testicular-like tissue echo.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e17\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e36\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e1.Left para-aortic obscure nodule in front of common iliac artery, suggest DWI imaging to exclude cryptorchidism possibility; 2.Bilateral inguinal sac-like shadow, consider unclosed processus vaginalis.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUterus underdeveloped. Right inguinal area testicular-like echo.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e18\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e60\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eUterus underdeveloped\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUterus underdeveloped. Left ovary small follicles.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e19\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e36\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eBilateral cryptorchidism. Abnormal echo behind bladder, consider uterus? Abnormal echo below uterus, consider vaginal atresia and cervical vaginal fluid accumulation possibility. No space-occupying lesions in bilateral adrenal area.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e20\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e13\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eLeft testis not displayed\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003ePrimitive uterus? Pelvic left anechoic area \u0026minus;\u0026thinsp;1, ureteral lower segment dilatation? 2, vaginal fluid accumulation? Other not ruled out. Suggest re-examination.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e21\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e48\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eBilateral wandering testes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e22\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e24\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eBladder posterior small cystic shadow\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eBladder posterior cystic mass, residual M\u0026uuml;llerian duct? Pelvic no clear uterus, ovarian tissue. Left inguinal cryptorchidism (inguinal type); right indirect inguinal hernia and cryptorchidism.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e23\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e96\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eFound inguinal mass\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUterus thin. No testis echo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e45,X(12)/46,XY(88)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY+, 5aSRD5A2 no abnormalities\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e24\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c2\"\u003e \u003cp\u003e19\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eAmbiguous genitalia\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo special\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c6\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eLeft cryptorchidism (inguinal type) with hydrocele. Right testis no obvious abnormality.\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c9\"\u003e \u003cp\u003e46,XX\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c10\"\u003e \u003cp\u003eSRY-, 5aSRD5A2 no abnormalities\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c11\"\u003e \u003cp\u003eNot done\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eThe biopsy results showed that there were 19 ovaries in 48 gonads (39.6%), including 13 on the left and six on the right. There are 14 testicles (29.2%), including five on the left and nine on the right. There are 15 ovotesticular gonads (31.2%), including six on the left and nine on the right. Nineteen cases underwent vulvar surgery, two of them underwent gender reassignment surgery and the rest did not change sex. Five cases did not undergo surgery due to undecided sex. Among the 19 cases who underwent surgery, there were no serious complications in female caregivers (0/8), and two cases of recurrent urethral fistula in male caregivers (2/11, 18.2%)(Table\u0026nbsp;\u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e2\u003c/span\u003e).\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab2\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eSurgery, pathology and follow-up of 24 children with ovotesticular DSD\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"8\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c6\" colnum=\"6\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c7\" colnum=\"7\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c8\" colnum=\"8\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e \u003cp\u003eID\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003eInitial Diagnosis Gender\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003eGonads: Left\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003eGonads: Right\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c5\"\u003e \u003cp\u003eM\u0026uuml;llerian Duct Manifestation\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c6\"\u003e \u003cp\u003eAssigned Gender\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c7\"\u003e \u003cp\u003eExternal Genital Surgery\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c8\"\u003e \u003cp\u003ePostoperative Complications\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e1\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e2\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eClitoroplasty\u0026thinsp;+\u0026thinsp;Right Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eIncision infection\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e3\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eProstatic utricle\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Left Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUrethral fistula\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e5\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eProstatic utricle\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eClitoroplasty\u0026thinsp;+\u0026thinsp;Right Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e6\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eClitoroplasty\u0026thinsp;+\u0026thinsp;Left Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e7\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo uterus or vagina\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e8\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Left Gonadectomy\u0026thinsp;+\u0026thinsp;Uterus and vagina removal\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUrethral fistula\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e9\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Removal of uterus and ovarian components\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eLost to follow-up\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e10\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eVagina present, uterus absent\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e11\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eProstatic utricle\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Left Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eRecurrent urethral fistula(\u0026gt;\u0026thinsp;3)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e12\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Right Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eRecurrent urethral fistula(\u0026gt;\u0026thinsp;3)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e13\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eRegression\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Left Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e14\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Left Gonadectomy\u0026thinsp;+\u0026thinsp;Uterus and vagina removal\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUrethral fistula\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e15\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eVagina present, uterus absent\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e16\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eClitoroplasty\u0026thinsp;+\u0026thinsp;Right Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e17\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eNo uterus or vagina\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eClitoroplasty\u0026thinsp;+\u0026thinsp;Right Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e18\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eClitoroplasty\u0026thinsp;+\u0026thinsp;Right Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e19\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Bilateral Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eUrethral fistula\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e20\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eRegression\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Left Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e21\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eRegression\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Right Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e22\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eClitoroplasty\u0026thinsp;+\u0026thinsp;Left Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e23\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eTestis\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eUterus and vagina present\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eFemale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eClitoroplasty\u0026thinsp;+\u0026thinsp;Left Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003eHormone replacement\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e24\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOvary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003eOvotesticular\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eRegression\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003eMale\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eHypospadias repair\u0026thinsp;+\u0026thinsp;Left Gonadectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003ePostoperative urinary incontinence, currently improved\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eIn the gonadal biopsy results of a patient, we observed that the same gonad can simultaneously exhibit two distinct types of gonadal tissue, characterized by ovarian tissue in the superficial layer and testicular tissue in the deeper layer (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e). During the biopsy process of a patient, it was difficult to determine the composition of the gonads from the appearance. The lower pole resembled the testicular tissue, but the biopsy results showed the superficial layer was ovarian tissue and deep layer was testicular tissue, which meaned ovotesticular gonad. The upper pole was very similar to the ovary, but the actual biopsy showed testicular tissue (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003e).\u003c/p\u003e "},{"header":"Discussion","content":"\u003cp\u003eDSD is a complex clinical problem due to the complexity of the pathogenesis and the wide spectrum of clinical phenotypes. The shift from the previous term \u0026ldquo;hermaphroditism\u0026rdquo; to the current term \u0026ldquo;disorders of sex development\u0026rdquo; or \u0026ldquo;abnormalities of sexual differentiation\u0026rdquo; illustrates the gradual development of medical professionals' understanding of the condition [\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e]. Research has demonstrated that multiple factors are involved in determining the final phenotype[\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e]. However, even with genome-wide testing, only 50% of the causes of the disease can be detected[\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e, \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e]. This may be due to the lack of awareness and misdiagnosis of the disease by some primary health care providers, and further suggests that the environment or other external factors may affect sex development through non-gene editing and ultimately lead to disorders of sex development.\u003c/p\u003e \u003cp\u003eOT-DSD is a common phenotype, and as mentioned earlier, all three chromosomal karyotypes can present with OT-DSD. Often, the external genitalia phenotype of children with OT-DSD is more complex, e.g., a boy with hypospadias is routinely chromosomally tested and found to be 46, XX, or a girl with clitoral hypertrophy (P1) may be found to have a Y chromosome due to occasional chromosomal testing, and further testing reveals ovotesticular disorders, and so on.\u003c/p\u003e \u003cp\u003eThe present study aligns with previous research in finding that 46, XX OT-DSD constitutes the most prevalent subtype (75.0%). Among these, specific pathogenic causes were identified in 2/18 cases, both attributed to SF-1 gene mutations. Other chromosomal patterns included 46, XX/46, XY mosaicism (12.5%), 45, X/46, XY mosaicism (8.3%), and one 46, XY case (4.2%)[\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e]. Current clinical consensus mandates gonadal biopsy for all patients with mosaic chromosomal abnormalities, which enhances diagnostic sensitivity for mosaic-type OT-DSD. However, diagnostic challenges persist in 46, XX and 46, XY DSD cases where gonadal biopsies are not routinely performed, potentially leading to underdiagnosis.\u003c/p\u003e \u003cp\u003eDue to historical limitations in diagnostic approaches, most patients underwent single-gene testing rather than comprehensive genetic evaluation. Consequently, definitive etiological determination was achieved in only 29.2% of cases (genetic or chromosomal abnormalities). While WES and whole genome sequencing (WGS) can improve diagnostic rate, their prohibitive cost precludes their use as first-line tests. We suggest using these advanced genetic analysis techniques for the etiological diagnosis of cases with unknown causes, or to assist the families of OT-DSD children in guiding future fertility plans.\u003c/p\u003e \u003cp\u003eIt is crucial to emphasize that even with gonadal biopsy, misdiagnosis remains possible. Most ovotesticular gonads can be distinguished by the naked eye or exhibit distinct boundaries in one gonad[\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e]. However, two exceptional scenarios warrant attention. Firstly, in underdeveloped gonads, superficial sampling may yield ovarian-like cortical tissue while deeper seminiferous tubules remain undetected (Fig.\u0026nbsp;\u003cspan refid=\"Fig1\" class=\"InternalRef\"\u003e1\u003c/span\u003e). Superficial biopsies in such cases risk misclassification as pure ovarian tissue. Secondly, some gonads display uniform macroscopic morphology (ovary- or testis-like) without discernible boundaries, yet histopathology confirms ovotesticular composition (Fig.\u0026nbsp;\u003cspan refid=\"Fig2\" class=\"InternalRef\"\u003e2\u003c/span\u003e). Limited sampling (single-site or partial biopsies) increases misdiagnosis. To mitigate these risks, we suggest that surgeons should obtain sufficiently deep tissue samples while preserving gonadal integrity and routinely submit specimens from both superior and inferior poles, regardless of gross morphology.\u003c/p\u003e \u003cp\u003eThere is still controversy over whether the gonads of children with OT-DSD should be preserved. Although some experts advocate preventive gonadectomy to reduce the risk of malignant transformation of underdeveloped gonads, the latest endocrine consensus suggests that Leydig cells can convert androstenedione into estrogen[\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e, \u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]. Therefore, for OT-DSD children raised in girls, we recommend retaining the testicular tissue until puberty. However, for individuals with 46, XY OT-DSD, early resection is generally recommended due to increased carcinogenic potential[\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e, \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e]. All patients with preserved gonads require regular ultrasound examinations.\u003c/p\u003e \u003cp\u003eFollow-up data from 19 cases underwent vulvar surgery revealed that 8 female-raised cases underwent reductive clitoroplasty without significant complications. Notably, vaginoplasty was deferred in cases with complete vaginal agenesis, necessitating extended follow-up until adulthood to assess outcomes. And male-raised cases demonstrated increased urethral fistula incidence, which may correlate with the complex urethral reconstruction required in severe perineal hypospadias cases.\u003c/p\u003e"},{"header":"Conclusion","content":"\u003cp\u003eOT-DSD belongs to a type of DSD with relatively clear pathological diagnosis, but more complex etiology and less clear prognosis. On the one hand, clinical doctors need to identify the possibility of ovotesticular gonads in children with external genitalia as early as possible. Biopsy needs to be as complete as possible, and based on the biopsy results, MDT consultations and family members should be organized to jointly develop a diagnosis and treatment plan, including whether further genetic testing is needed and the selection of gonads and gender.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003eAuthor contributions\u003c/p\u003e\n\u003cp\u003eDian Li: protocol/project development, methodology, data collection, data analysis manuscript writing. Tianxin Zhao, Rui Zhou and Gaochen Bai: data collection. Wen Fu and Liyu Zhang: methodology, data analysis. Xiangliang Tang: project idea, protocol/project development, manuscript review, data collection, data analysis. Guochang Liu: manuscript review.\u003c/p\u003e\n\u003cp\u003eFunding\u003c/p\u003e\n\u003cp\u003eThe study was provided by Guangzhou Health Science and Technology General Guidance Project (No. 20231A010025) and Internal Fund of Guangzhou Women and Children's Medical Center (No. GWCMC2020-4-011).\u003c/p\u003e\n\u003cp\u003eAvailability of data and material\u003c/p\u003e\n\u003cp\u003eAll raw data were generated at the Department of Pediatric Urology, Women and Children's Medical Center Affiliated to Guangzhou Medical University.\u0026nbsp;\u003c/p\u003e\n\u003cp\u003eDeclarations\u003c/p\u003e\n\u003cp\u003eConflict of interest\u003c/p\u003e\n\u003cp\u003eAll authors certify that they have no financial and/or personal relationship with any person or organization that could have inappropriately influenced their work. The authors declare no conflicts of interest.\u003c/p\u003e\n\u003cp\u003eEthics approval and consent\u003c/p\u003e\n\u003cp\u003eThe institutional review board approved this study. All patients have signed informed consent forms to participate in this study and we can provide evidence\u003c/p\u003e\n\u003cp\u003eConsent for publication\u003c/p\u003e\n\u003cp\u003eThe final manuscript is approved for publication by all authors.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eJ\u0026uuml;rgensen M, Rapp M, D\u0026ouml;hnert U et al (2021) Assessing the health-related management of people with differences of sex development. 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Eur J Endocrinol 187(3):451\u0026ndash;462 Published 2022 Jul 29. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1530/EJE-22-0283\u003c/span\u003e\u003cspan address=\"10.1530/EJE-22-0283\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eGriggers JI, Higgins R, Terris MK (2024) Ovarian malignancy in an individual with 46,XY ovotesticular disorder of sexual development - A case report. Urol Case Rep 53:102680 Published 2024 Feb 14. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1016/j.eucr.2024.102680\u003c/span\u003e\u003cspan address=\"10.1016/j.eucr.2024.102680\" targettype=\"DOI\" class=\"RefTarget\"\u003e\u003c/span\u003e\u003c/span\u003e\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"world-journal-of-urology","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"wjur","sideBox":"Learn more about [World Journal of Urology](https://link.springer.com/journal/345)","snPcode":"345","submissionUrl":"https://submission.nature.com/new-submission/345/3","title":"World Journal of Urology","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"ovotesticular disorders of sex development, clinical features, genetic characteristics","lastPublishedDoi":"10.21203/rs.3.rs-6880625/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-6880625/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eOBJECTIVE: To understand the clinical features and genetic characteristics of ovotesticular disorders of sex development in our center, and to provide a basis for further precise and individualized treatment plan.\u003c/p\u003e\n\u003cp\u003eMETHODS: Inclusion criteria: 1. Children with disorders of sex development who were hospitalized for surgery in the Department of Urology of Guangzhou Women and Children's Medical Center from 2015 to 2021; 2. Pathologic results suggesting ovotesticular disorders of sex development; 3. Genetic test results were available.\u003c/p\u003e\n\u003cp\u003eExclusion criteria: incomplete basic clinical information. The basic clinical information required includes: 1. Age and sex at first diagnosis; 2. Physical examination of external genitalia; 3. Ultrasound or MRI results; 4. chromosome examination.\u003c/p\u003e\n\u003cp\u003eResults:1.A total of 24 children were included in the study;2. The age ranged from 6 months to 10 years, with a mean age of 30.5 months;3. The preoperative sex ratio of male to female was 13 to 11;4. Twenty-two cases complained of ambiguity of the external genitalia, one was found to have inguinal mass in a girl, and one was found to have breast development in a boy; 5. Mean prader grade was three grade; 6. The chromosome results of the children were 46, XX in 18 cases (75.0%), chimerism in five cases (20.8%), and 46, XY in one case (4.2%); 7. Two cases were SF-1 heterozygous mutations (8.3%), and the rest did not have a clear pathogenic mutation or without genetic examination. 8. Nineteen cases underwent vulvar surgery, two of them underwent gender reassignment surgery and the rest did not change sex. Five cases did not undergo surgery due to undecided sex. Among the 19 cases who underwent surgery, there were no serious complications in female caregivers (0/8), and two cases of recurrent urethral fistula in male caregivers (2/11, 18.2%).\u003c/p\u003e\n\u003cp\u003eConclusion: The clinical features of ovotesticular disorders of sex development are diverse and the phenotypic spectrum is extremely broad, and it is difficult to detect the causative mutation by single gene testing. The composition of gonads cannot be inferred only from appearance. In order to avoid missed diagnosis, biopsies should be taken as deep as possible while preserving most of the gonads, and the upper and lower poles of the gonads should be taken. The selection of the gonads and the sex of the gonads is important and complex, and should be made after Multi-Disciplinary Treatment and in accordance with the wishes of the family. Long-term follow-up for risk of malignancy is warranted in all cases where gonadal selection cannot be determined or where the choice is made to retain the opposite gonad chromosomal.\u003c/p\u003e","manuscriptTitle":"Clinical features and genetic characteristics of ovotesticular disorders of sex development - 24 cases from a single center","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-06-25 06:17:37","doi":"10.21203/rs.3.rs-6880625/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"Revision requested","date":"2025-08-05T10:36:49+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"","date":"2025-06-30T08:07:44+00:00","index":"hide","fulltext":""},{"type":"reviewerAgreed","content":"27180292480749651377284767595018722433","date":"2025-06-17T14:46:32+00:00","index":"hide","fulltext":""},{"type":"reviewersInvited","content":"","date":"2025-06-16T17:46:25+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-06-14T18:03:48+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-06-14T15:57:30+00:00","index":"","fulltext":""},{"type":"submitted","content":"World Journal of Urology","date":"2025-06-12T12:55:58+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"world-journal-of-urology","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":false,"externalIdentity":"wjur","sideBox":"Learn more about [World Journal of Urology](https://link.springer.com/journal/345)","snPcode":"345","submissionUrl":"https://submission.nature.com/new-submission/345/3","title":"World Journal of Urology","twitterHandle":"","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"stoa","reportingPortfolio":"Springer Hybrid","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"57496592-f6dc-4d23-96b4-5e8d7094049d","owner":[],"postedDate":"June 25th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[],"tags":[],"updatedAt":"2025-12-22T16:13:13+00:00","versionOfRecord":{"articleIdentity":"rs-6880625","link":"https://doi.org/10.1007/s00345-025-06143-w","journal":{"identity":"world-journal-of-urology","isVorOnly":false,"title":"World Journal of Urology"},"publishedOn":"2025-12-17 15:58:17","publishedOnDateReadable":"December 17th, 2025"},"versionCreatedAt":"2025-06-25 06:17:37","video":"","vorDoi":"10.1007/s00345-025-06143-w","vorDoiUrl":"https://doi.org/10.1007/s00345-025-06143-w","workflowStages":[]},"version":"v1","identity":"rs-6880625","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-6880625","identity":"rs-6880625","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}