Ovarian dysfunction by activating mutation of GS alpha: McCune-Albright syndrome as a model.
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.
Chanson
P
P
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
Salenave
S
S
Young
J
J
D000328:Adult; D002890:Chromosomes, Human, Pair 20; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000235:genetics*; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D018392:Genomic Imprinting; D006801:Humans; D010053:Ovary / Q000503:physiopathology*; D010062:Ovulation Induction; D011247:Pregnancy; D011629:Puberty, Precocious / Q000235:genetics
D019205:GTP-Binding Protein alpha Subunits, Gs