Document Detail


Ovarian dysfunction by activating mutation of GS alpha: McCune-Albright syndrome as a model.
MedLine Citation:
PMID:  20362972     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The McCune-Albright syndrome is characterized by cafe-au-lait spots, precocious puberty, and fibrous dysplasia. It is due to mutations in the gene encoding the GS protein alpha subunit coupling 7-transmembrane-domain receptors to adenylate cyclase, leading to constitutive adenylate cyclase activation and cAMP overproduction. Endocrinologists and gynecologists are confronted with new issues when these children reach adulthood. Gonadal function and fertility are often abnormal in women in whom puberty was precocious, owing to the persistence of a variable degree of ovarian autonomy that hinders adequate follicular development and ovulation.
Authors:
P Chanson; S Salenave; J Young
Publication Detail:
Type:  Journal Article     Date:  2010-04-02
Journal Detail:
Title:  Annales d'endocrinologie     Volume:  71     ISSN:  0003-4266     ISO Abbreviation:  Ann. Endocrinol. (Paris)     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-05-10     Completed Date:  2010-08-10     Revised Date:  2010-09-24    
Medline Journal Info:
Nlm Unique ID:  0116744     Medline TA:  Ann Endocrinol (Paris)     Country:  France    
Other Details:
Languages:  eng     Pagination:  210-3     Citation Subset:  IM    
Copyright Information:
Copyright 2010. Published by Elsevier Masson SAS.
Affiliation:
Assistance publique-Hôpitaux de Paris, service d'endocrinologie et des maladies de la reproduction, hôpital de Bicêtre, université Paris-Sud 11, faculté de médecine Paris-Sud, Inserm U693, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France. philippe.chanson@bct.aphp.fr
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosomes, Human, Pair 20
Female
Fibrous Dysplasia, Polyostotic / genetics*
GTP-Binding Protein alpha Subunits, Gs / genetics*
Genomic Imprinting
Humans
Ovary / physiopathology*
Ovulation Induction
Pregnancy
Puberty, Precocious / genetics
Chemical
Reg. No./Substance:
EC 3.6.5.1/GTP-Binding Protein alpha Subunits, Gs

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


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