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

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

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11 Scopus citations


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 (US)
Pages (from-to)227-239
Number of pages13
JournalAmerican journal of medical genetics
Issue number1-2
StatePublished - Jan 1 1986
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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