title: Reproductive dysfunction in women with Albright's hereditary osteodystrophy.
abstract: Most individuals with Albright's hereditary osteodystrophy (AHO) have deficient expression or function of G(s alpha), the alpha subunit of the guanine nucleotide binding protein that stimulates adenylyl cyclase, and are resistant to parathyroid hormone (PTH) and other hormones that act via stimulation of adenylyl cyclase. To determine the incidence and etiology of ovarian dysfunction in women with AHO, we examined the reproductive history and hypothalamic-pituitary-ovarian axis in 17 affected women aged 17-43 yr. All patients had typical PTH resistance and an approximately 50% reduction in erythrocyte G(s alpha) activity, (0.43 +/- 0.03 vs. 0.92 +/- 0.08 for normal control subjects, P < 0.001). Fourteen of the 17 patients (76%) were oligomenorrheic or amenorrheic, more than half had delayed or incomplete sexual development, and only two had a history of earlier pregnancy. Most women were mildly hypoestrogenic, with normal to slightly elevated serum gonadotropin levels. Computer analysis of 24 hour LH measurement showed that the frequency of LH peaks/24 h in AHO women varied widely, but as a group they were not statistically different from a group of normal women studied in the early follicular phase. Administration of 100 microg synthetic GnRH produced normal FSH and LH responses. We conclude that reproductive dysfunction is common in women with AHO and probably represents partial resistance to gonadotropins.
authors.affiliation: Department of Gynecology and Obstetrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.
authors.forename: A B
authors.initials: AB
authors.lastname: Namnoum
authors.forename: G R
authors.initials: GR
authors.lastname: Merriam
authors.forename: A M
authors.initials: AM
authors.lastname: Moses
authors.forename: M A
authors.initials: MA
authors.lastname: Levine
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D005640:Follicle Stimulating Hormone / Q000097:blood; D019204:GTP-Binding Proteins / Q000097:blood / Q000235:genetics; D007987:Gonadotropin-Releasing Hormone; D006728:Hormones / Q000097:blood; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008499:Medical Records; D010053:Ovary / Q000473:pathology; D011547:Pseudohypoparathyroidism / Q000209:etiology / Q000503:physiopathology; D011673:Pulsatile Flow; D012333:RNA, Messenger / Q000378:metabolism; D012098:Reproduction / Q000502:physiology*
chemical_list: D006728:Hormones; D012333:RNA, Messenger; D007987:Gonadotropin-Releasing Hormone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D019204:GTP-Binding Proteins