Linked Life Data

15317892

Source:http://linkedlifedata.com/resource/pubmed/id/15317892

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
2004-8-19
pubmed:abstractText
WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals. An 18-year-old woman presented with primary amenorrhea and an absence of müllerian-derived structures, unilateral renal agenesis, and clinical signs of androgen excess--a phenotype resembling the Mayer-Rokitansky-Küster-Hauser syndrome and remarkably similar to that of female Wnt4-knockout mice. A genetic evaluation revealed a loss-of-function mutation in the WNT4 gene. WNT4 appears to be important in the development and maintenance of the female phenotype in women, by means of the regulation of müllerian-duct formation and control of ovarian steroidogenesis.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1533-4406
pubmed:author
pubmed:copyrightInfo
Copyright 2004 Massachusetts Medical Society
pubmed:issnType
Electronic
pubmed:day
19
pubmed:volume
351
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
792-8
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.
pubmed:affiliation
Division of Pediatric Endocrinology and Diabetology, University Children's Hospital, Zurich, Switzerland. anna.lauber@kispi.unizh.ch
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't