Mayer-Rokitansky-Kuster-Hauser Syndrome with Scoliosis - A Case Report

The Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH syndrome) is a congenital condition that is characterized by the absence of the uterus and vagina but ovaries are present and the external genitalia are normal. It affects at least 1 out of 4500 women. MRKH may be isolated (Type I) but it is more frequently associated with renal, vertebraland to a lesser extent auditory and cardiac defects (Type II or MURCS - Mullerian duct aplasia, Renal dysplasia and Cervical Somite anomalies). There are very few cases of MRKH syndrome with vertebral defect reported in the literature. To help establish the best criteria for early diagnosis and treatment options for a comprehensive therapeutic approach to MRKH patients, we report a case of MRKH syndrome with scoliosis who presented to us with primary amenorrhea.