The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report.
We report on a 22 years old lady with aplasia of uterus and most of the vagina with normal secondary sexual characteristics, unilateral renal hypoplasia and anomalies of cervico throacic somites (MURCS Association), growth retardation, cardiac defect and congenital urethrovaginal fistula. Although there is a broad spectrum of anomalies described with MURCS association genitourinary fistula is not yet reported and reviewed in published articles. The relevance of this paper is to show the importance of further investigation in cases of primary amenorrhoea with mullerian agenesis to establish that the patient has MURCS association and not simply MRKH (Mayer Rokitansky-Kusterhauser Syndrome) syndrome. Consequently we should provide guidance to the patients and their families about the best way to conduct the case including genetic counseling and family screening.
Dr Nasreen Akhter, Associate Professor, Department of Obs & Gynae, Khulna Medical College, Khulna, Bangladesh; E-mail: fastlink07@gmail.com.
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D058489:46, XX Disorders of Sex Development / Q000175:diagnosis* / Q000000981:diagnostic imaging; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging; D002574:Cervical Vertebrae / Q000002:abnormalities; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D009095:Mullerian Ducts / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D019170:Somites / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000002:abnormalities; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities; D055815:Young Adult