title: Gonadal function in men with the Martin-Bell (fragile-X) syndrome.
abstract: We evaluated testicular function in 15 men with the Martin-Bell (fragile-X) mental retardation syndrome. Macro-orchidism was present in all subjects. Their mean serum LH and FSH levels and plasma testosterone and dihydrotestosterone levels were normal. The mean plasma levels of androstenedione, 17-hydroxyprogesterone, and progesterone were slightly elevated above the normal range, whereas the plasma levels of dehydroepiandrosterone and dehydroepiandrosterone-sulfate were normal. The response in the levels of plasma testosterone following a 5 day period of hCG stimulation was normal in 8 subjects and there was no abnormal accumulation of androgen precursors. The level of 5 alpha-reductase activity and androgen receptor binding was normal in genital skin fibroblasts derived from 3 of these patients. The response of gonadotropin secretion to GnRH stimulation was normal in the 8 men who were tested. Therefore, our data are consistent with the hypothesis that testicular enlargement in men with the Martin-Bell syndrome is not mediated by hormonal factors.
authors.forename: G D
authors.initials: GD
authors.lastname: Berkovitz
authors.forename: D P
authors.initials: DP
authors.lastname: Wilson
authors.forename: N J
authors.initials: NJ
authors.lastname: Carpenter
authors.forename: T R
authors.initials: TR
authors.lastname: Brown
authors.forename: C J
authors.initials: CJ
authors.lastname: Migeon
mesh_terms: D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D042944:Cholestenone 5 alpha-Reductase; D006063:Chorionic Gonadotropin; D005640:Follicle Stimulating Hormone / Q000097:blood; D005600:Fragile X Syndrome / Q000503:physiopathology*; D012739:Gonadal Steroid Hormones / Q000097:blood*; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D010088:Oxidoreductases / Q000378:metabolism; D010906:Pituitary Hormone-Releasing Hormones; D011944:Receptors, Androgen / Q000378:metabolism; D012729:Sex Chromosome Aberrations / Q000503:physiopathology*; D012867:Skin / Q000378:metabolism; D013737:Testis / Q000503:physiopathology*; D013739:Testosterone / Q000097:blood
chemical_list: D006063:Chorionic Gonadotropin; D012739:Gonadal Steroid Hormones; D010906:Pituitary Hormone-Releasing Hormones; D011944:Receptors, Androgen; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D010088:Oxidoreductases; D042944:Cholestenone 5 alpha-Reductase