Familial gynecomastia with increased extraglandular aromatization of plasma carbon19-steroids

G. D. Berkovitz, A. Guerami, T. R. Brown, P. C. MacDonald, C. J. Migeon

Research output: Contribution to journalArticle

67 Scopus citations

Abstract

We evaluated a family in which gynecomastia occurred in five males in two generations. In each affected subject, gynecomastia and male sexual maturation began at an early age. The ratio of the concentration of plasma estradiol-17β to that of plasma testosterone was elevated in each affected subject. In the three siblings with gynecomastia, the transfer constant of conversion of androstenedione to estrone (i.e., the fraction of plasma androstenedione that was converted to estrone as measured in the urine) was 10 times that of normal persons. The transfer constant of conversion of testosterone to estradiol-17β in the one subject studied also was 8-10 times that of normal men, whereas the transfer constants of conversion of estrone to estradiol-17β and of estradiol-17β to estrone were normal. Despite the elevation in extraglandular aromatase activity, there was a normal response of the hypothalamic-pituitary axis to provocative stimuli. This is the second documentation of gynecomastia that is associated with increased extraglandular aromatase activity, and the first time that the defect was found to be familial with a probable X-linked (or autosomal dominant, sex limited) mode of inheritance.

Original languageEnglish (US)
Pages (from-to)1763-1769
Number of pages7
JournalJournal of Clinical Investigation
Volume75
Issue number6
DOIs
StatePublished - 1985

ASJC Scopus subject areas

  • Medicine(all)

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