Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature

• Published in: Annals of pediatric endocrinology & metabolism Vol. 24; no. 3; pp. 207 - 211
• Main Authors: Kim, Sun, Lee, Yeong Seok, Kim, Dong Hyun, Yang, Aram, Lee, Tack, Hwang, Seun Deuk, Kwon, Dae Gyu, Lee, Ji Eun
• Format: Journal Article
• Language: English
• Published: Korean Society of Pediatric Endocrinology 01.09.2019; 대한소아내분비학회
• Subjects: Case Report; Child; Mayer Rokitansky-Küster-Hauser anomaly; Mullerian aplasia; Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia association; 소아과학
• ISSN: 2287-1012; 2287-1292
• DOI: 10.6065/apem.2019.24.3.207

Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia (MURCS) association is a unique development disorder with four common types of malformations that include uterine aplasia or hypoplasia, renal ectopy or agenesis, vertebral anomalies, and short stature. The majority of MURCS patients are diagnosed with primary amenorrhea from late-adolescence. However, a few cases with MURCS association are not well diagnosed during childhood and long-term outcomes are not well reported. We report a case of an 8-year-old girl with MURCS association who presented with recurrent urinary tract infections and multiple congenital malformations, and who was followed for 10 years until adulthood. MURCS association should be considered as one of the differential diagnoses when evaluating prepubertal females with vertebral and renal malformations.Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia (MURCS) association is a unique development disorder with four common types of malformations that include uterine aplasia or hypoplasia, renal ectopy or agenesis, vertebral anomalies, and short stature. The majority of MURCS patients are diagnosed with primary amenorrhea from late-adolescence. However, a few cases with MURCS association are not well diagnosed during childhood and long-term outcomes are not well reported. We report a case of an 8-year-old girl with MURCS association who presented with recurrent urinary tract infections and multiple congenital malformations, and who was followed for 10 years until adulthood. MURCS association should be considered as one of the differential diagnoses when evaluating prepubertal females with vertebral and renal malformations.