A mutation of the androgen receptor associated with partial androgen resistance, familial gynecomastia, and fertility

P. B. Grino, Jim Griffin III, W. G. Cushard, J. D. Wilson

Research output: Contribution to journalArticle

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Abstract

A family is described in which gynecomastia and undervirilization in five men (four of whom have fathered children) were inherited in a manner compatible with an X-linked defect. Three members from whom blood could be obtained had supranormal serum testosterone and normal LH and FSH levels. One man had severe oligospermia with decreased motility, and one had normal sperm density and motility. In fibroblasts cultured from genital skin biopsies from two of the men, the levels of androgen receptor and affinity of binding of receptor to dihydrotestosterone were normal. However, androgen binding in fibroblast monolayers was thermolabile, up-regulation of receptor levels did not occur after prolonged incubation of monolayers with dihydrotestosterone or methyltrienolone, and dissociation rates at 37 C were increased with the synthetic androgen mibolerone. In addition, in cytosol preparations the androgen receptor protein was unstable. This disorder probably represents the most subtle functional abnormality of androgen receptor characterized to date, it is compatible with normal male phenotypic development and in some affected men with fertility. It follows that infertility is not an invariable feature of androgen resistance as we previously suggested.

Original languageEnglish (US)
Pages (from-to)754-761
Number of pages8
JournalJournal of Clinical Endocrinology and Metabolism
Volume66
Issue number4
StatePublished - 1988

Fingerprint

Androgen Receptors
Androgens
Fertility
Dihydrotestosterone
Fibroblasts
Mutation
Monolayers
Testosterone Congeners
Metribolone
Biopsy
Gynecomastia
Oligospermia
Testosterone
Sperm Motility
Skin
Blood
Cytosol
Infertility
Defects
Up-Regulation

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

A mutation of the androgen receptor associated with partial androgen resistance, familial gynecomastia, and fertility. / Grino, P. B.; Griffin III, Jim; Cushard, W. G.; Wilson, J. D.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 66, No. 4, 1988, p. 754-761.

Research output: Contribution to journalArticle

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