title: Molecular defects causing ovarian dysfunction.
abstract: The functions of the hypothalamic-pituitary-ovarian and -adrenal axes are intertwined, and molecular defects in either axis may cause ovarian dysfunction. Advances in molecular genetics have allowed new insights into the pathophysiology of ovarian disorders. Specific gene mutations causing delayed puberty and/or ovarian failure, and heterosexual or isosexual precocious puberty have recently been described. The molecular insights gained into ovarian dysfunction have already led to rational therapies for some of these conditions.
authors.affiliation: Section on Women's Health Research, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.
authors.forename: S N
authors.initials: SN
authors.lastname: Kalantaridou
authors.forename: G P
authors.initials: GP
authors.lastname: Chrousos
mesh_terms: D001141:Aromatase / Q000378:metabolism; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics / Q000378:metabolism; D007986:Luteinizing Hormone / Q000235:genetics / Q000502:physiology; D008297:Male; D009154:Mutation; D010049:Ovarian Diseases / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics; D011628:Puberty, Delayed / Q000235:genetics; D011629:Puberty, Precocious / Q000235:genetics
chemical_list: D007986:Luteinizing Hormone; D001141:Aromatase