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KMID : 1036920190240030207
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Annals of Pediatric Endocrinology & Metabolism
2019 Volume.24 No. 3 p.207 ~ p.211
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Long-term follow-up on MURCS (Mullerian duct, renal, cervical somite dysplasia) association and a review of the literature
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Kim Sun
Lee Yeong-Seok
Kim Dong-Hyun
Yang A-Ram
Lee Tack
Hwang Seun-Deuk
Kwon Dae-Gyu
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Abstract
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Mullerian 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.
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KEYWORD
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Mullerian aplasia, Mullerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia association, Mayer Rokitansky-Kuster-Hauser anomaly, Child
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