Hernia uteri inguinalis in ovotesticular disorder of sexual differentiation: A rare complication and role of imaging.

A 20-year-old phenotypic male presented with left inguinal swelling and pain since 1 month. He had a past surgical history of repair of hypospadias 10 years back. On examination, sparse facial hair was noted. Axillary and pubic hair (Tanner stage 4) was noted. Phallus length was 3.5 cm [ Figure 1B ]. Bilateral gynecomastia [ Figure 1A ] with left indirect inguinal hernia was noted. Left testis was not identified. (A) Phenotypic male patient with bilateral gynecomastia. (B) Small phallus with scrotum Abdomen and inguino-scrotal ultrasound revealed solitary small testis in the right scrotal sac with an approximate volume of 3 cm 3 [ Figure 2A ], solitary normal-sized ovary in the left scrotal sac with an approximate volume of 6 cm 3 [ Figure 2B ], and left indirect inguinal hernia with suspicious uterus and fallopian tube in the hernia sac [ Figure 2C ]. (A) Grey scale ultrasound image shows small testis in the right scrotal sac. (B) Grey scale ultrasound image shows normal sized ovary with follicles in the left scrotal sac. (C) Grey scale ultrasound image shows left inguinal hernia sac with non-functioning uterus within it On biochemical examination, testosterone (156 ng/dl) and dehydroepiandrosterone sulfate (79 μg/dl) levels were below normal range; however, follicle stimulating hormone, luteinizing hormone, progesterone, prolactin, and thyroid hormones were within normal range. Karyotyping showed 46XX [ Figure 3 ] and fluorescence in situ hybridization was negative for sex determining region-Y (SRY) gene [ Figure 4 ]. Patient was subjected to magnetic resonance imaging (MRI) pelvis, which demonstrated solitary testis in the right scrotal sac [ Figure 5A ] with inguinal hernia on the left side with herniation of ovary and nonfunctioning uterus [ Figure 5B ]. Prostate could not be definitely identified. Contralateral testis and ovary were not identified. Double X chromosomes with absent Y chromosome suggestive of genotypic female) Fish shows two X with absent SRY gene (A) Coronal T2 weighted MRI pelvis shows testis in the right scrotal sac. (B) Coronal T2 weighted MRI pelvis shows left inguinal hernia with left ovary and non-functioning uterus On operation, the left inguinal sac contained small uterus, ovary, and fallopian tube, which was excised. The histopathology confirmed the same [Figure 6A – C ]. Psychiatric counseling was done and decided to raise the patient as a male. Testis was retained. (A) HPE shows ovarian follicle. (B) HPE of uterus shows endometrium with adenomyosis. (C) HPE shows fallopian tube

Neonate with ambiguous genitalia can cause great apprehension for the family as well as for healthcare providers. Timely and appropriate gender assignment is necessary for healthy physical and psychologic development of these children. Work-up is best accomplished with a coordinated medical team that includes a pediatric endocrinologist, geneticist, urologist, and radiologist to ensure timely diagnosis and proper management. Imaging plays an important role in accurately demonstrating the anatomy and possible effects on other organs.[ 1 ] Disorder of sexual differentiation (DSD) is defined as a condition in which chromosomal sex is inconsistent with phenotypic sex, or in which the phenotype is not classifiable as either male or female, and the estimated prevalence is about 0.018% (i.e., one in 5555 persons).[ 2 3 ] Hernia uterine inguinale is a rare condition and an even more uncommon cause of loin pain, instead presenting as an asymptomatic palpable groin mass early in life. This has been rarely reported in the literature associated with true hermaphrodite or ovotesticular disorder of sexual differentiation (OT-DSD) with only three cases being reported worldwide thus far, including our case. It is most often seen in a phenotypically normal male infant having both testes and uterine tissue present. Abdominal and pelvic imaging is useful in the diagnosis of this condition because it may aid in identifying patients with coexisting Müllerian malformations.

OT-DSD is a congenital anomaly characterized by the presence of both ovary and testis tissues. Genotypic sex is determined by chromosomes. For phenotypic sex development, these chromosomes activate some pathways and hormones. In the presence of SRY gene, differentiation into male phenotype begins. Absence or inactivation of SRY gene causes the development of the female phenotype.[ 4 ] Fetus has both Müllerian and Wolffian ducts until the sixth week of gestation. In early gestational period (<7 weeks), embryological developmental defect influences both Wolffian and Müllerian ducts.[ 5 ] Testicular testosterone production promotes the growth of Wolffian duct. Anti-Müllerian hormone (AMH) is secreted by sertoli cells. AMH is responsible for regression of Müllerian duct between 8 and 10 weeks of gestation. Any abnormality during gonadal development and differentiation of male or female phenotype can result in DSD. Either of the Müllerian duct remnants, such as the uterus, fallopian tube, and cervix, is also seen in patients with OT-DSD.[ 5 ] In 2006, a task force sponsored by the European Society for Pediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society proposed a new nomenclature and classification system as well as new management recommendations for DSD.[ 6 ] These disorders were further subdivided into 46XY DSD (disorders of gonadal or testicular development and impaired androgen synthesis or action), 46XX DSD (disorders of gonadal or ovarian development and androgen excess), and chromosomal DSD (numeric sex chromosome anomalies). There is some overlap between these three subgroups. This new terminology has replaced the older terms hermaphroditism and pseudohermaphroditism and emphasizes the genetic origin of the disorders.[ 3 ] In the presence of the penis, hypospadias is commonly seen. If testis is present, it is usually undescended. Due to undescended testes, infertility is a common problem but ovulation or spermatogenesis can occur. In delayed diagnosis of OT-DSD, there is also a high risk of malignancy in the ectopic gonads.[ 7 8 ] Therefore, surgery is necessary in the treatment of OT-DSD. Ocal G has prepared a diagnostic algorithm of 46XX DSD for new classification[ 7 ] [ Figure 7 ]. Diagnostic algorithm of 46XX DSD The imaging modalities can be used for preoperative evaluation of anatomy. Ultrasound (US), computed tomography (CT), or MRI can be performed. US is cost-effective, dynamic, noninvasive, and easily available and can differentiate the echotexture of ovaries and testis definitively. It can be used as primary imaging modality, especially with different approaches (transabdominal, endoluminal, and transperineal). Transperineal US can be performed using conventional and high-resolution linear probe positioned directly above the anus, and may capture images of the anal canal, rectum, puborectalis muscle, vagina, uterus, urethra, and urinary bladder. CT has a limited role in evaluation of DSD due to poor soft tissue resolution of pelvis. MRI helps to characterize the abnormal pelvic anatomy. MRI examination should be reserved for cases in which DSD is suspected but US failed to identify the gonads, or when proper differentiation between clitoral hypertrophy and micropenis is required for proper precorrective surgery assessment.[ 9 ] MRI multiplanar investigation with high-contrast resolution provides excellent soft tissue characterization. The other advantage of MRI is lack of radiation exposure. “Hernia uteri inguinalis” is rarely seen in DSD with only three cases being reported worldwide thus far, including our case. Two other cases are reported by Venkataram et al .[ 10 ] and Ceylan et al .[ 11 ] Infants and children born with DSD pose a diagnostic and therapeutic challenge to the clinicians and radiology plays a very important role in management. The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Nil. There are no conflicts of interest.