A Síndrome de Insensibilidade Androgênica: Revisão Integrativa dos Aspectos Genéticos, Moleculares, Clínicos e Psicossociais

Abstract

Androgen Insensitivity Syndrome (AIS) is a rare X-linked disorder of sexual development (DSD) characterized by partial or complete resistance of 46, XY individuals to androgen action. This integrative review synthesizes clinical and molecular-genetic evidence, discussing the structure of the androgen receptor (AR) gene, the spectrum of pathogenic variants, and established genotype–phenotype correlations, drawing on Brazilian clinical series and international reports ^[1–7]. The molecular heterogeneity of AR (mapped to Xq11–12, comprising eight exons and a 2,757 bp coding sequence) underlies the wide phenotypic variability ranging from complete (CAIS) to mild (MAIS) forms ^[1,2]. Molecular diagnosis, using techniques such as PCR-SSCP and sequencing, is essential for etiological confirmation, genetic counseling, and clinical and psychosocial decision-making ^[2,4]. A multidisciplinary and humanized approach is crucial to mitigate psychosocial impacts and promote autonomy and wellbeing in individuals with AIS ^[3,6].