Header

UZH-Logo

Maintenance Infos

Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings


Sultan, C; Biason-Lauber, A; Philibert, P (2009). Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings. Gynecological endocrinology, 25(1):8-11.

Abstract

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by Mullerian duct aplasia in an XX individual with female phenotype presenting primary amenorrhea at adolescence. Multiple abnormalities may be associated with the MRKH syndrome. Genetic investigations focused on the genes of anti-Mullerian hormone and its receptor, as well as on Wt1, Pax2, Cftr and Hox genes, have been unproductive. Only the Wnt4 gene has been clearly implicated in MRKH syndrome and found to be associated with clinical and/or biological signs of hyperandrogenism in three different works. Beside the multiple malformations that may be associated with MRKH syndrome, such as renal, skeletal, cardiac and auditory defects, MRKH and hyperandrogenism represent a new clinical and genetic disorder.

Abstract

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by Mullerian duct aplasia in an XX individual with female phenotype presenting primary amenorrhea at adolescence. Multiple abnormalities may be associated with the MRKH syndrome. Genetic investigations focused on the genes of anti-Mullerian hormone and its receptor, as well as on Wt1, Pax2, Cftr and Hox genes, have been unproductive. Only the Wnt4 gene has been clearly implicated in MRKH syndrome and found to be associated with clinical and/or biological signs of hyperandrogenism in three different works. Beside the multiple malformations that may be associated with MRKH syndrome, such as renal, skeletal, cardiac and auditory defects, MRKH and hyperandrogenism represent a new clinical and genetic disorder.

Statistics

Citations

53 citations in Web of Science®
64 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

1 download since deposited on 16 Mar 2010
0 downloads since 12 months
Detailed statistics

Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2009
Deposited On:16 Mar 2010 09:08
Last Modified:05 Apr 2016 13:54
Publisher:Informa Healthcare
ISSN:0951-3590
Publisher DOI:https://doi.org/10.1080/09513590802288291

Download

Preview Icon on Download
Filetype: PDF - Registered users only
Size: 1MB
View at publisher