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VOLUME 4 , ISSUE 2 ( May-August, 2011 ) > List of Articles

CASE REPORT

Mayer-Rokitansky-Kuster-Hauser Syndrome

Meha Jabeen

Citation Information : Jabeen M. Mayer-Rokitansky-Kuster-Hauser Syndrome. World J Lap Surg 2011; 4 (2):123-128.

DOI: 10.5005/jp-journals-10007-1128

Published Online: 01-08-2011

Copyright Statement:  Copyright © 2011; Jaypee Brothers Medical Publishers (P) Ltd.


Abstract

The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. It affects at least one out of 4,500 women. MRKH may be isolated (type I) but it is more frequently associated with renal, vertebral and, to a lesser extent, auditory and cardiac defects (MRKH type II or MURCS association). The first sign of MRKH syndrome is a primary amenorrhea in young women presenting otherwise with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, and karyotype 46, XX without visible chromosomal anomaly. The phenotypic manifestations of MRKH syndrome overlap with various other syndromes or associations and thus require accurate delineation. For a long time, the syndrome has been considered as a sporadic anomaly, but increasing number of familial cases now supports the hypothesis of a genetic cause. In familial cases, the syndrome appears to be transmitted as an autosomal dominant trait with incomplete penetrance and variable expressivity. This suggests that the involvement of either mutations in a major developmental gene or a limited chromosomal imbalance. However, the etiology of MRKH syndrome still remains unclear. Treatment of vaginal aplasia, which consists in creation of a neovagina, can be offered to allow sexual intercourse. As psychological distress is very important in young women with MRKH, it is essential for the patients and their families to attend counseling before and throughout treatment.


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