Partial Mullerian Agenesis with Renal and Skeletal Anomalies: An Observational Study of MURCS Association

Abstract

Background: Müllerian agenesis is a disorder of genital development characterized by absence of the vagina, an absent or hypoplastic uterus, and normal or hypoplastic fallopian tubes. Typically, the ovaries are entirely normal, although one or both also may be undescended, hypoplastic, or associated with an inguinal hernia. Affected patients often also have urologic anomalies (15-40) % (unilateral renal agenesis, ectopic or horseshoe kidney, and duplication of the collecting systems) and skeletal malformations (5-10) %, (e.g., hemiverterbrae and scoliosis, or the Klippel-Feil syndrome). The cause is unknown, although some cases are associated with chromosomal translocations or occur in familial aggregates, suggesting a genetic basis. Logically, müllerian agenesis might be attributed to an activating mutation in the gene encoding AMH or its receptor, causing excess AMH activity, but none have been identified. Aim: The aim of this study was to analyze and present rare cases of partial mullerian agenesis combined with renal and/or skeletal malformations, their causes, clinical features, diagnosis and treatment along with review of literatures. Methods: A retrospective observational study was conducted in the department of Bangabandhu Sheikh Mujib Medical University. All four cases presented with similar type of presentation and were diagnosed as partial Mullerian aplasia (cervico-vaginal agenesis) with other associated anomalies (renal, skeletal or cardiac anomalies) ie: MURCS association. Results: We analysed four cases of mullerian agenesis with renal and/or skeletal abnormalities presented with primary amenorrhoea with cyclical lower abdominal pain. Subsequently these patients were ascertained to have cervicovaginal agenesis with renal and skeletal abnormalities by physical examination and relevant investigations. Two (50%) patients had renal anomalies in the form of renal agenesis and one small malrotated kidney while 100% patients had skeletal abnormalities. One (25%) patient had congenital cardiac anomaly, one (25%) patient had history of cleft lip and cleft palate and one (25%) patient had history of imperforated anus at birth. Evaluation included clinical examination, whole abdominal ultrasound, skeletal survey and karyotyping along with some supportive investigations. Conclusion: The management is varied but multidisciplinary approach, psychological and social supports are the key points of managing such cases.