Mayer Rokitansky Kuster Hauser (MRKH) Syndrome: A Case Report

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare disorder of congenital uterine malformation characterized by aplasia of the uterus and the upper two-thirds of the vagina. This disease may cause a significant decrease in quality of life. This article reviews the case report of a a 21-year-old woman came with primary amenorrhoea and underdeveloped breasts. External physical examination showed female sexual maturity consistent with Tanner stage 1. Ultrasound examination and abdominal CT scan showed uterine hypoplasia and no ovaries. There were no abnormalities of other organs in the abdomen. The laboratory test showed testosterone levels less than2.5ng/dL, FSH 0.16 mlU/ml, LH less than0.5 mlU/ml, and 46 XX karyotypes. The patient was given estrogen hormone replacement therapy to improve the patient's quality of life by enlarging breasts, preventing osteoporosis, and reducing the risk of heart and vascular disease. Our patient had MRKH syndrome type B/atypical-M4 characterized by uterine hypoplasia and agenesis of bilateral ovaries.