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Article

Novel and recurrent mutations in patients with androgen insensitivity syndromes.

Hormone research - 1 Jan 2005

Ledig Susanne, Jakubiczka Sibylle, Neulen Joseph, Aulepp Ute, Burck-Lehmann Uta, Mohnike Klaus, Thiele Hannelore, Zierler Hannelore, Brewer Carole, Wieacker Peter

Abstract excerpt

BACKGROUND/AIMS: Androgen insensitivity syndrome (AIS) caused by mutations within the androgen receptor gene represents a variety of phenotypes from females with 46,XY karyotype over individuals with ambiguous genitalia to infertile males. METHODS: We studied 24 patients with AIS by sequencing androgen receptor gene. 19 of the investigated patients were affected by complete androgen insensitivity syndrome (CAIS)...

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Identifiers

PMID: 15925895
DOI: 10.1159/000086018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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