Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.

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Article

Point mutation in the DNA binding domain of the androgen receptor in two families with Reifenstein syndrome.

American journal of human genetics - 1 Jun 1992

Klocker H, Kaspar F, Eberle J, Uberreiter S, Radmayr C, Bartsch G

Abstract excerpt

Inadequate androgen action in genetic and gonadal males causes an intersex phenotype. We have analyzed the androgen receptor (AR) gene in male pseudohermaphrodites with normal specific binding of dihydrotestosterone in their genital skin fibroblasts. In five patients with Reifenstein syndrome we have detected a point mutation in the DNA binding domain. They are from two unrelated families and presented with...

Topics

Alleles
Amino Acid Sequence
Animals
Base Sequence
Binding Sites
Cell Line
Cells, Cultured
Child
DNA
DNA-Binding Proteins
Dihydrotestosterone
Disorders of Sex Development

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exons

Fibroblasts

Humans

Male

Molecular Sequence Data

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 1598912
PMCID: PMC1682556

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1598912-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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