MURCS Syndrome: Atypical form of Mayer–Rokitansky–Kuster–Hauser Syndrome

MURCS syndrome stands for mullerian duct aplasia, renal anomalies, and cervicothoracic somite anomalies. This is an atypical manifestation of MRKH (Mayer–Rokitansky–Kuster–Hauser) syndrome and is classified as MRKH type 2. Their usual presentation is for the evaluation of primary amenorrhea, and some may present early for the evaluation of short stature, like in our case. We report a case of a 9-year-old girl who presented with short stature. Its presentation is sporadic in the majority and, in others, may be inherited by an autosomal dominant pattern with incomplete penetrance. So far, candidate genes have been evaluated among the affected families, but clear genetic information is not available. Ovaries are normal in most of the children with MURCS syndrome and may develop normal secondary sexual characteristics. Either uterine transplantation or surrogacy is the option for fertility due to the absence of mullerian derivatives.