Androgen Insensitivity in Man: Evidence for Genetic Heterogeneity

Overview

Journal Proc Natl Acad Sci U S A

Specialty Science

Date 1976 Mar 1

PMID 176660

Citations 25

Authors

J A Amrhein

W J Meyer 3rd

H W Jones Jr

C J Migeon

Affiliations

Soon will be listed here.

Abstract

We have studied ten phenotypically similar patients with complete androgen insensitivity. All of the patients tested had significantly elevated serum luteinizing hormone and plasma androgens within or above the normal adult male range. On the basis of specific dihydrotestosterone binding by skin fibroblasts, we identified two subgroups. Six patients from five different families had undetectable dihydrotestosterone binding, while four patients from two families had normal binding activity. Our results indicate that within the clinical syndrome of androgen insensitivity there are at least two distinct genetic variants. These variants may result from allelic mutations of the same X-linked gene specifying the dihydrotestosterone receptor or, alternatively, from mutations of separate genes both being essential for androgen action in responsive cells.

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