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

• Main Authors: Sun Kim, Yeong Seok Lee, Dong Hyun Kim, Aram Yang, Tack Lee, Seun Deuk Hwang, Dae Gyu Kwon, Ji Eun Lee
• Format: Article
• Language: English
• Published: Korean Society of Pediatric Endocrinology 2019-09-01
• Series: Annals of Pediatric Endocrinology & Metabolism
• Subjects: Mullerian aplasia; Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia association; Mayer Rokitansky-Küster-Hauser anomaly; Child
• Online Access: http://e-apem.org/upload/pdf/apem-2019-24-3-207.pdf

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.