Androgen receptor abnormalities in identical twins with oligospermia. Clinical and biochemical studies

Robert Christian Smallridge, Robert Vigersky, Allan R. Glass, James E. Griffin, Beverly J. White, Charles Eil

Research output: Contribution to journalArticle

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Abstract

Identical twin brothers presented with oligospermia, small testes, normal male phenotypes, elevated serum luteinizing hormone levels, and normal or elevated serum testosterone levels. Both men had low to low-normal cytosol androgen receptor binding capacity in cultured fibroblasts from pubic skin biopsy specimens. Qualitative abnormalities of cellular androgen receptors were suggested by low-normal or low nuclear androgen uptake in fibroblasts from both brothers as well as abnormal thermolability and subnormal molybdate stabilization of androgen receptors from one brother. In vivo androgen sensitivity was assessed in one twin following administration of testosterone or the non-aromatizable androgen fluoxymesterone. Fluoxymesterone suppressed serum luteinizing hormone and serum testosterone/estradiol-binding globulin, and although testosterone suppressed both serum luteinizing hormone and serum follicle-stimulating hormone, the suppression of serum luteinizing hormone by testosterone was subnormal. Both subjects showed marked exaggeration of the serum 17-hydroxyprogesterone increase after administration of human chorionic gonadotropin, despite normal serum testosterone increases, suggesting a block in testicular 17,20-desmolase, which converts 17-hydroxyprogesterone to testosterone. These studies suggest that oligospermia and block of the enzyme 17,20-desmolase may be the earliest manifestations of androgen resistance, and the finding of the syndrome of oligospermia, normal male phenotype, and androgen receptor abnormalities in identical twins indicates a genetic etiology of this disorder.

Original languageEnglish (US)
Pages (from-to)1049-1054
Number of pages6
JournalThe American journal of medicine
Volume77
Issue number6
DOIs
StatePublished - 1984
Externally publishedYes

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Oligospermia
Monozygotic Twins
Androgen Receptors
Testosterone
Luteinizing Hormone
Serum
Fluoxymesterone
Steroid 17-alpha-Hydroxylase
Androgens
17-alpha-Hydroxyprogesterone
Siblings
Fibroblasts
Androgen-Insensitivity Syndrome
Phenotype
Serum Globulins
Sex Hormone-Binding Globulin
Inborn Genetic Diseases
Clinical Studies
Follicle Stimulating Hormone
Chorionic Gonadotropin

ASJC Scopus subject areas

  • Nursing(all)

Cite this

Androgen receptor abnormalities in identical twins with oligospermia. Clinical and biochemical studies. / Smallridge, Robert Christian; Vigersky, Robert; Glass, Allan R.; Griffin, James E.; White, Beverly J.; Eil, Charles.

In: The American journal of medicine, Vol. 77, No. 6, 1984, p. 1049-1054.

Research output: Contribution to journalArticle

Smallridge, Robert Christian ; Vigersky, Robert ; Glass, Allan R. ; Griffin, James E. ; White, Beverly J. ; Eil, Charles. / Androgen receptor abnormalities in identical twins with oligospermia. Clinical and biochemical studies. In: The American journal of medicine. 1984 ; Vol. 77, No. 6. pp. 1049-1054.
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