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Reproductive Dysfunction in Women with Albright’s Hereditary Osteodystrophy¹

Departments of Gynecology and Obstetrics (A.B.N.) and Medicine (M.A.L.), The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287; VA Puget Sound Health Care System and Divisions of Metabolism, Endocrinology and Nutrition, and Reproductive Endocrinology, University of Washington, Seattle, Washington 98195 (G.R.M.); Department of Medicine (A.M.M.), the State University Hospital, Syracuse, New York 13210

Address all correspondence and requests for reprints to: Michael A. Levine, M.D., Division of Endocrinology and Metabolism, The Johns Hopkins University School of Medicine, 863 Ross Research Building, 720 Rutland Avenue, Baltimore, Maryland 21205. E-mail: mlevine{at}welchlink.welch.jhu.edu

Most individuals with Albright’s hereditary osteodystrophy (AHO) have deficient expression or function of G_s, 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 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° 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 µg 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.

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