Email updates

Keep up to date with the latest news and content from Orphanet Journal of Rare Diseases and BioMed Central.

Open Access Highly Accessed Review

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Karine Morcel12, Laure Camborieux3, Programme de Recherches sur les Aplasies Müllériennes (PRAM)4 and Daniel Guerrier1*

Author Affiliations

1 CNRS UMR 6061, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, Rennes, France

2 Département d'Obstétrique, Gynécologie et Médecine de la Reproduction Hôpital Anne de Bretagne, Rennes, France

3 Association MAIA, Toulouse, France

4 Programme de Recherches sur les Aplasies Müllériennes (PRAM) – Coordination at: CNRS UMR 6061, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1, IFR140 GFAS, Faculté de Médecine, Rennes, France

For all author emails, please log on.

Orphanet Journal of Rare Diseases 2007, 2:13  doi:10.1186/1750-1172-2-13

Published: 14 March 2007

Abstract

The Mayer-Rokitansky-Küster-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 1 out of 4500 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 support 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 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.