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Article

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene.

Scientific reports - 9 Sept 2016

Känsäkoski Johanna, Jääskeläinen Jarmo, Jääskeläinen Tiina, Tommiska Johanna, Saarinen Lilli, Lehtonen Rainer, Hautaniemi Sampsa, Frilander Mikko J, Palvimo Jorma J, Toppari Jorma, Raivio Taneli

Abstract excerpt

Mutations in the X-linked androgen receptor (AR) gene underlie complete androgen insensitivity syndrome (CAIS), the most common cause of 46,XY sex reversal. Molecular genetic diagnosis of CAIS, however, remains uncertain in patients who show normal coding region of AR. Here, we describe a novel mechanism of AR disruption leading to CAIS in two 46,XY sisters. We analyzed whole-genome sequencing data of the...

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Identifiers

PMID: 27609317
DOI: 10.1038/srep32819
PMCID: PMC5016895

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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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