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Article

Two de novo mutations in the AR gene cause the complete androgen insensitivity syndrome in a pair of monozygotic twins.

The Journal of clinical endocrinology and metabolism - 1 Mar 2002

Mongan Nigel P, Jääskeläinen Jarmo, Green Katherine, Schwabe John W, Shimura Naoto, Dattani Mehul, Hughes Ieuan A

Abstract excerpt

The androgen insensitivity syndrome (AIS) is the most common cause of male undermasculinization and is typically caused by mutations in the AR gene. Affected individuals may exhibit either complete external feminization (complete AIS) or a partial phenotype (partial AIS). Here we describe monozygotic twins diagnosed with complete AIS who each possess two substitutions (C-->G at position 2930 and T-->C at position...

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Identifiers

PMID: 11889162
DOI: 10.1210/jcem.87.3.8329

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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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