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Article

Androgen insensitivity and the evolving genetic heterogeneity.

Best practice & research. Clinical endocrinology & metabolism - 1 Jul 2025

Hornig Nadine, Batista Rafael Loch

Abstract excerpt

Androgen Insensitivity Syndrome (AIS) is a 46,XY difference of sex development (DSD) classically caused by mutations in the androgen receptor (AR) gene, leading to variable androgen resistance and a broad phenotypic spectrum traditionally classified as complete, partial, or mild. Phenotypic variability can occur even with identical AR mutations, particularly those within the ligand-binding domain of the AR....

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PMID: 40335402
DOI: 10.1016/j.beem.2025.102000

Genes

AR

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