{"paper_id":"f7d32ef5-6dd9-4b31-984d-513a5c20994f","body_text":"Case Report\n45\nCopyright© 2025 The Author. Published by Galenos Publishing House on behalf of National Society of Gynecology and Obstetrics. This is an open \naccess article under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 (CC BY-NC-ND) International License.\nEndometrioma Excision in a Patient with VACTERL Syndrome and a \nRudimentary Uterine Horn: a Case Report\n Adil Abdulhayoğlu,  Büşra Körpe,  Caner Köse\nUniversity of Healthy Sciences Turkey , Ankara Etlik City Hospital, Clinic of Obstetrics and Gynecology , Ankara, Turkey\nVertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies, and limb defects \n(VACTERL) association is a rare congenital condition characterized by multiple organ systems, including the vertebrae, anus, \ncardiac system, trachea, esophagus, renal system, and limbs. Müllerian duct anomalies have been infrequently found in \nVACTERL association, with only a few cases reported. We present a case of a 20-year-old female with VACTERL association, \npresenting with a right adnexal mass diagnosed as an endometrioma. The mass measured 83x64x38 mm and exhibited typical \nfeatures of endometrioma, including a hypoechoic 'ground glass' appearance. Magnetic resonance imaging also revealed a \nright non-communicating rudimentary uterine horn. A laparotomy was performed for the excision of the endometrioma and the \nremoval of the rudimentary uterine horn. The patient had an uneventful postoperative recovery , with discharge on postoperative \nday three. Follow-up visits showed satisfactory healing and resolution of symptoms. This case highlights the challenges in \nmanaging gynecological conditions in individuals with VACTERL association and underscores the need for tailored surgical \napproaches to address coexisting congenital anomalies.\nKeywords: VACTERL association, endometrioma, mullerian duct anomalies, rudimentary uterine horn, surgical management\nABSTRACT\nINTRODUCTION\nVertebral anomalies, anal atresia, cardiac malformations, \ntracheoesophageal fistula, renal anomalies, and limb defects \n(VACTERL) association is a rare, non-random constellation \nof congenital malformations that affects multiple organ \nsystems, including the vertebrae, anus, cardiac structures, \ntrachea, esophagus, kidneys, and limbs. 1,2 While Müllerian  \nduct anomalies are infrequent in patients with VACTERL, the \nrudimentary uterine horn is a rare form of such anomaly. Often \nassociated with other congenital malformations, it can present \nsignificant surgical challenges, especially when complications \nlike endometriosis or endometriomas.3-5\nManaging endometriomas in patients with VACTERL \nassociation is challenging, especially when Müllerian defects \nlike a rudimentary horn are present. 6 Altered reproductive \nanatomy can complicate surgical access and treatment. The \nrare coexistence of a rudimentary horn and endometriomas in \nVACTERL patients required careful surgical planning.7\nThis report highlights the surgical management of an \nendometrioma in a patient with VACTERL association and \na rudimentary uterine horn. It emphasizes the challenges of \ndiagnosis and treatment, the importance of a multidisciplinary \napproach and the need for awareness of Müllerian anomalies \nin patients with VACTERL association, as their presence can \nsignificantly impact the clinical course and management of \nassociated gynecological conditions.\nCASE REPORT\nA 20-year-old female with a known history of vertebral \nmalformations, tracheoesophageal fistula repair in infancy, \nand renal hypoplasia was referred to our clinic with a \ncomplaint of progressively worsening right lower abdominal \npain, dysmenorrhea and irregular bleeding over the last few \nmonths. Upon review of her medical history, it was found \nthat she had undergone multiple surgical interventions, \nincluding tracheoesophageal fistula repair during infancy, anal \ntransposition, and rectal dilation procedures in later years. In \naddition, she had been treated for vesicoureteral reflux with \ncystoscopy and subureteral injections. Other noted anomalies \nincluded butterfly vertebrae, left renal hypoplasia, right aortic \nAddress for Correspondence: Caner Köse, University of Healthy Sciences Turkey , Ankara Etlik City Hospital, Clinic of Obstetrics and Gynecology , Ankara, \nTurkey \nE-mail: dr.canerkose@gmail.com ORCID ID: orcid.org/0000-0002-3044-4804\nReceived: 17.01.2025 Accepted: 07.04.2025 Epub: 14.05.2025 Publication Date: 29.05.2025\nCite this article as: Abdulhayoğlu A, Körpe B, Köse C. Endometrioma excision in a patient with VACTERL syndrome and a rudimentary uterine horn: a \ncase report. Anat J Obstet Gynecol Res. 2025;2(1):45-48\nAnat J Obstet Gynecol Res 2025;2(1):45-48\nDOI: 10.4274/anajog.galenos.2025.07078\n\nAnat J Obstet Gynecol Res 2025;2(1):45-48Abdulhayoğlu et al. VACTERL Syndrome and Endometrioma\n46\narch, and aberrant left subclavian artery. Based on these \nfindings, the diagnosis of VACTERL association was strongly \nsuggested.\nOn initial examination, the patient was alert, oriented, and \nafebrile, with stable vital signs. Abdominal examination \nrevealed tenderness in the right lower quadrant without signs \nof peritoneal irritation. No palpable masses were felt, and the \nabdomen was soft and non-distended. The pelvic examination \ndid not reveal any abnormalities, though the patient did report \nmild discomfort upon deep palpation of the right adnexal region. \nFurther evaluation through transabdominal ultrasonography \nrevealed a well-defined, cystic mass measuring approximately \n8 cm in diameter located in the right adnexa. The mass \ndemonstrated typical features of an endometrioma, \nincluding a homogenous, hypoechoic appearance, with a \n“ground glass” pattern, a hallmark of endometriotic tissue. \nNo internal vascularity was detected on Doppler imaging, \nwhich is consistent with a benign cystic lesion. Moreover, the \nsurrounding ovarian tissue appeared intact, without signs \nof torsion or rupture. These ultrasonographic findings were \nsuggestive of an endometrioma, which was later confirmed by \nmagnetic resonance imaging (MRI).\nThe MRI confirmed the presence of an endometrioma and \nadditionally identified a rudimentary uterine horn on the right \nside. This rudimentary horn with an endometrial cavity and \nwas not connected to the cervix. In contrast, the left uterine \nhorn was normally developed and was found to be connected \nto the cervix, with a well-formed endometrial cavity, consistent \nwith a unicornuate uterus. The anatomical findings supported \na diagnosis of a unicornuate uterus with a non-communicating \nrudimentary horn, an anomaly rarely reported in VACTERL \nassociation.\nGiven the complexity of the patient’s case, consultations with \nnephrology and anesthesiology were sought to evaluate the \nassociated risks and plan for optimal perioperative care. The \nnephrology consultation focused on assessing the patient’s \nrenal function, as she had a history of renal hypoplasia, and \nto ensure that her kidney function was adequate for surgical \nmanagement. The anesthesiology consultation was essential \ndue to her history of tracheoesophageal fistula, which required \na thorough assessment of her airway and anesthetic risks. The \nteam was particularly concerned about potential challenges \nwith intubation, given her anatomical anomalies.\nRoutine preoperative laboratory tests, including hemoglobin, \nrenal function, and coagulation profiles, were within normal \nlimits. The patient received intravenous cefazolin (1 g) \nprophylactically before surgery to minimize the risk of infection. \nA laparotomy was selected due to the patient’s altered \nanatomy and history of previous surgeries, which increased \nthe complexity of laparoscopic access. Under general \nanesthesia, a Pfannenstiel incision  was made. Upon entry \ninto the peritoneal cavity, extensive pelvic adhesions were \nnoted, particularly between the bowel and adnexa. Sharp and \nblunt adhesiolysis was performed to improve visualization. \nThe right adnexal mass was identified and confirmed as \nan endometrioma. The cyst was carefully dissected from \novarian tissue , and complete excision was performed using \nmeticulous hemostasis  to preserve ovarian function. The \nright non-communicating rudimentary uterine horn was then \nmobilized and excised at its base. The excised horn was non-\ncommunicating with the endometrial cavity and had a fibrous \nattachment to the main uterus.\nHemostasis was ensured, and the peritoneal cavity was \nirrigated with warm saline. A drain was placed  in the right \nadnexal region due to the extent of adhesiolysis. The \nabdominal wall was closed in layers, and the patient was \nextubated without complications (Figure 1). \nFigure 1. Endometrioma and right rudimentary horn\n\nAnat J Obstet Gynecol Res 2025;2(1):45-48Abdulhayoğlu et al. VACTERL Syndrome and Endometrioma\n47\nThe patient was monitored in the postoperative unit for 24 hours, \nwith stable vital signs and adequate urine output. Pain control \nwas managed with paracetamol and tramadol as needed. Deep \nvein thrombosis prophylaxis was provided with low molecular \nweight heparin (enoxaparin 40 mg subcutaneously daily) until \ndischarge. The surgical drain was removed on postoperative \nday two, with minimal serous output. The patient tolerated oral \nintake on postoperative day one, ambulated early, and had an \nuneventful recovery. She was discharged on postoperative day \nthree with instructions for wound care, pain management, and \nscheduled follow-up. Histopathological examination confirmed \nan endometriotic cyst and fibromuscular tissue consistent with \na rudimentary uterine horn.\nThe patient was treated with dienogest after surgery to prevent \nrecurrence of endometrioma, reduce inflammation, and \nmanage residual pain. At the one-month follow-up, the patient \nreported resolution of pain, and at the three-month follow-\nup, she reported regular menstrual cycles. No complications \nor recurrent symptoms were noted, indicating a favorable \nresponse to treatment. Informed consent was obtained for this \ncase report at the post-discharge outpatient clinic controls. \nDISCUSSION\nThe aim of this case report was to highlight the challenges in \ndiagnosing and managing a patient with VACTERL association \nwho presented with an endometrioma in the presence of a \nrudimentary uterine horn, a rare Müllerian anomaly. This case \nexpands on the existing literature by presenting a unique \ncombination of congenital anomalies that complicate both \ndiagnosis and surgical management. A further aim was \nto demonstrate the multidisciplinary approach required to \naddress the complexities of such cases and to explore how \nthe rare coexistence of these abnormalities in a patient with \nVACTERL association presented specific clinical challenges.\nSeveral studies have shown that patients with VACTERL \nassociation often have reproductive system abnormalities, \nincluding uterine malformations like unicornuate uterus or, less \nfrequently, rudimentary horns.7-14 For example, a 17-year-old girl \nwith VACTERL presented with severe dysmenorrhea and was \nfound to have a unicornuate uterus and a non-communicating \nrudimentary left horn. 9 After pelvic MRI and surgery, her \nsymptoms resolved. Delayed diagnosis contributed to \nprolonged symptoms, highlighting the importance of timely \nintervention. Similarly, a 14-year-old with left renal agenesis and \nanorectal malformation presented with cyclical abdominal pain, \nwhich was later diagnosed as a right unicornuate uterus with a \nrudimentary left horn and hematosalpinx. Surgical intervention \nresolved her symptoms. 12 Lavoie et al. 11 reported a 10-year-\nold with recurrent abdominal pain, eventually diagnosed with \nuterine didelphys, hematometrocolpos, and hematosalpinx, \nwhich was also successfully treated with surgery. These cases \nemphasize the importance of early imaging and intervention in \nmanaging reproductive tract anomalies in VACTERL patients.\nHowever, the combination of VACTERL association, a \nrudimentary horn, and an endometrioma is an extremely rare \nclinical scenario that has not been well documented.7 Bhadwal \net al. 7 presented two cases of uterine rudimentary horn and \novarian endometriosis in patients with VACTERL association. \nOne involved a 12-year-old girl with a unicornuate uterus and \nan obstructed right uterine horn, leading to hematometra, \nhemosalpinx, and an endometrioma in the right ovary. This case \nemphasizes the importance of considering Müllerian anomalies \nin adolescents with gynecological symptoms and VACTERL, \nas they can lead to complications, including hematometra and \nendometriosis. The second case involved a 14-year-old girl with \nabdominal pain initially diagnosed as a right ovarian cyst, which \nwas later reclassified as a rudimentary horn with hematometra. \nThis case highlights the need for thorough radiological \nevaluation, as Müllerian anomalies can be easily overlooked \non standard imaging. Both cases underscore the rarity of \nVACTERL-associated Müllerian duct anomalies and emphasize \nthe need for a high index of suspicion. Management typically \ninvolves surgical excision of the obstructed uterine horn and \nremoval of endometriotic lesions to prevent complications like \ninfertility and chronic pain.7\nA distinguishing feature of our case was the need for a \nmultidisciplinary approach. Given the complexity of the \npatient’s anatomy, consultations with nephrology and \nanesthesiology were essential for preoperative evaluation. \nNephrology assessed the patient’s renal function due to the \npresence of renal hypoplasia, while anesthesiology evaluated \npotential airway complications arising from her previous \ntracheoesophageal fistula repair. These consultations \nwere critical to ensure the patient’s safety during surgery, \nhighlighting the importance of comprehensive preoperative \nplanning in complex cases such as this.\nThe management of patients with VACTERL association requires \na tailored, multidisciplinary approach due to the complexity of \nthe associated anomalies. A combination of gynecological, \nsurgical, and radiological expertise is often necessary to address \nthe challenges presented by these cases. Surgical intervention, \nas demonstrated in this case, can offer significant symptomatic \nrelief and improve the quality of life for affected individuals.\nCONCLUSION\nThis case presents a unique and rare combination of \nVACTERL association, a rudimentary uterine horn, and an \nendometrioma, highlighting the complexities in diagnosis and \nmanagement when multiple congenital anomalies coexist. \nThe presence of a rudimentary uterine horn in a patient with \nVACTERL association is infrequently documented, and its \ncoexistence with an endometrioma further complicates both \nthe clinical picture and surgical approach. This report adds \nto the limited body of literature on such complex cases and \nunderscores the importance of a multidisciplinary approach in \nthe management of these patients.\nEthics\nInformed Consent: It was obtained.\nAuthorship Contributions\nSurgical and Medical Practices: A.A., C.K., Concept: B.K., \nDesign: C.K., Data Collection or Processing: A.A., Analysis or \nInterpretation: B.K., C.K., Literature Search: B.K., Writing: A.A.\n\nAnat J Obstet Gynecol Res 2025;2(1):45-48Abdulhayoğlu et al. VACTERL Syndrome and Endometrioma\n48\nConflict of Interest: No conflict of interest was declared by \nthe authors.\nFinancial Disclosure: The authors declared that this study \nreceived no financial support.\nREFERENCES\n1. Solomon BD. The etiology of VACTERL association: Current \nknowledge and hypotheses. Am J Med Genet C Semin Med Genet. \n2018;178(4):440-446. \n2. Forero LT , Henderson R, Galarreta C, Swee S, Bird LM. Expansion \nof the core features of VACTERL association to include genital \nanomalies. Am J Med Genet A. 2024;194(9):e63587. \n3. Hambraeus M, Börjesson A, Ekmark AN, Tofft L, Arnbjörnsson \nE, Stenström P . Genital malformations in children with VACTERL-\nhas time come to include “G” in the acronym? J Pediatr Surg. \n2024;59(10):161575. \n4. Teo XL, Narasimhan KL, Chua JH. Müllerian agenesis in the \npresence of anorectal malformations in female newborns: a \ndiagnostic challenge. Singapore Med J. 2015;56(5):e82-e84. \n5. Forero LT , Henderson R, Galarreta C, Swee S, Bird LM. Expansion \nof the core features of VACTERL association to include genital \nanomalies. Am J Med Genet A. 2024;194(9):e63587. \n6. Bhamidipaty-Pelosi S, Kyei-Barffour I, Volpert M, et al. Mullerian \nanomalies and endometriosis: associations and phenotypic \nvariations. Reprod Biol Endocrinol. 2024;22(1):157. \n7. Bhadwal A, Sharma S, Ranga S. 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