Gonadal function in men with the Martin-Bell (fragile-X) syndrome

Gary Berkovitz, D. P. Wilson, N. J. Carpenter, T. R. Brown, C. J. Migeon

Research output: Contribution to journalArticle

9 Citations (Scopus)

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 5α-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.

Original languageEnglish
Pages (from-to)227-239
Number of pages13
JournalAmerican Journal of Medical Genetics
Volume23
Issue number1-2
StatePublished - Jul 2 1986
Externally publishedYes

Fingerprint

Fragile X Syndrome
Testosterone
17-alpha-Hydroxyprogesterone
Dehydroepiandrosterone Sulfate
Dehydroepiandrosterone
Androstenedione
Dihydrotestosterone
Androgen Receptors
Gonadotropins
Gonadotropin-Releasing Hormone
Androgens
Progesterone
Oxidoreductases
Reference Values
Fibroblasts
Skin
Serum

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Berkovitz, G., Wilson, D. P., Carpenter, N. J., Brown, T. R., & Migeon, C. J. (1986). Gonadal function in men with the Martin-Bell (fragile-X) syndrome. American Journal of Medical Genetics, 23(1-2), 227-239.

Gonadal function in men with the Martin-Bell (fragile-X) syndrome. / Berkovitz, Gary; Wilson, D. P.; Carpenter, N. J.; Brown, T. R.; Migeon, C. J.

In: American Journal of Medical Genetics, Vol. 23, No. 1-2, 02.07.1986, p. 227-239.

Research output: Contribution to journalArticle

Berkovitz, G, Wilson, DP, Carpenter, NJ, Brown, TR & Migeon, CJ 1986, 'Gonadal function in men with the Martin-Bell (fragile-X) syndrome', American Journal of Medical Genetics, vol. 23, no. 1-2, pp. 227-239.
Berkovitz G, Wilson DP, Carpenter NJ, Brown TR, Migeon CJ. Gonadal function in men with the Martin-Bell (fragile-X) syndrome. American Journal of Medical Genetics. 1986 Jul 2;23(1-2):227-239.
Berkovitz, Gary ; Wilson, D. P. ; Carpenter, N. J. ; Brown, T. R. ; Migeon, C. J. / Gonadal function in men with the Martin-Bell (fragile-X) syndrome. In: American Journal of Medical Genetics. 1986 ; Vol. 23, No. 1-2. pp. 227-239.
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