Authors: Nidhi Jain , Pardaman Singh, Deepak Goel, Jyotsna kamra
Abstract
Mayer-Rokitansy-Kuster-Hauser (MRKH) syndrome is a rare congenital Müllerian duct malformation. Its incidence is 1 in 4500 female live births. It is one of the common causes of primary amenorrhea. The clinical features include primary amenorrhea, normal development of secondary sexual characters and blind vagina. Diagnosis is confirmed by ultrasound and MRI pelvis. The radiological features are aplasia of uterus and upper two third of vagina. Normal 46 XX genotype is found. It is of two types, type A which is isolated type and type B which is associated with other anomalies such as renal, cardiac, skeletal and adnexal pathologies. Treatment includes psychological counselling and surgical creation of neovagina. Pregnancy can be achieved by assisted reproductive techniques in woman with normal ovarian function. The authors hereby discuss the case via a case report of 16 year old Asian girl who presented with primary amenorrhea and found to have MRKH type B syndrome.
Keywords
Primary amenorrhea, Müllerian duct, MRKH syndrome
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