Ann Pediatr Endocrinol Metab.  2019 Sep;24(3):207-211. 10.6065/apem.2019.24.3.207.

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

Affiliations
  • 1Department of Pediatrics, Inha University Graduate school of Medicine, Inha University Hospital, Incheon, Korea. anicca@inha.ac.kr
  • 2Department of Urology, Inha University College of Medicine, Incheon, Korea.
  • 3Department of Internal Medicine, Inha University College of Medicine, Incheon, Korea.
  • 4Department of Orthopaedic Surgery, Inha University Hospital, Incheon, Korea.

Abstract

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.

Keyword

Mullerian aplasia; Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia association; Mayer Rokitansky-Küster-Hauser anomaly; Child

MeSH Terms

Amenorrhea
Child
Diagnosis, Differential
Female
Follow-Up Studies*
Humans
Somites*
Urinary Tract Infections
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