Document Detail


Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings.
MedLine Citation:
PMID:  19165657     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Charles Sultan; Anna Biason-Lauber; Pascal Philibert
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology     Volume:  25     ISSN:  1473-0766     ISO Abbreviation:  Gynecol. Endocrinol.     Publication Date:  2009 Jan 
Date Detail:
Created Date:  2009-01-23     Completed Date:  2009-04-02     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8807913     Medline TA:  Gynecol Endocrinol     Country:  England    
Other Details:
Languages:  eng     Pagination:  8-11     Citation Subset:  IM    
Affiliation:
Unite d'Endocrinologie-Gynecologie Pediatriques, Service de Pediatrie I, Hopital Arnaud de Villeneuve, CHU Montpellier, Montpellier, France. c-sultan@chu-montpellier.fr
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis*,  genetics*
Adolescent
Female
Genetic Testing
Humans
Models, Biological
Mullerian Ducts / abnormalities*
Syndrome
Wnt Proteins / genetics
Chemical
Reg. No./Substance:
0/Wnt Proteins; 0/Wnt-4 protein

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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