Endometriosis in a case with Fraser Syndrome

Abstract

Introduction: Fraser Syndrome is a rare genetic disorder characterized by urogenital defects, cutaneous syndactyly and cryptophthalmos commonly diagnosed during foetal autopsy. Vaginal atresia is one of the major diagnostic criteria of Fraser Syndrome and could be a contributing factor of endometriosis following the development of hematocolpos. Imperforate hymen, often misdiagnosed as vaginal atresia, is a rare diagnosis in patients with Müllerian anomalies. Here, we report a case of Fraser Syndrome with chronic pelvic pain as a result of delayed hymenotomy and the extensive management of endometriosis. Case Report: A 15-year-old girl with Fraser Syndrome presented with pelvic pain. Examination revealed a large hematocolpos caused by an imperforate hymen. Due to the lack of paediatric intensive care locally, she had a delayed hymenotomy. She continued to suffer from chronic pelvic non-cyclical pain post-hymenotomy. Preliminary laparoscopy and biopsy showed endometriosis. Despite excision and clearance of endometriosis, she experienced persistent pain while taking morphine and was trialled with several hormonal therapies such as leuprorelin acetate, progestogen and combined hormonal therapy. She received medical therapy for 10 years until she re-presented with erratic bleeding and pain. Laparoscopy again identified endometriosis. Conclusion: Early recognition and treatment minimize risk of endometriosis especially in premenarcheal adolescent girls with obstructive Müllerian anomalies presenting with pelvic pain. Adequate pain control and medical management permit a delay in surgical intervention facilitating further investigations and thorough counselling with the patient and family about the implications of endometriosis on fertility and quality of life.