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Review
. 2018 Mar-Apr;62(2):227-235.
doi: 10.20945/2359-3997000000031.

Androgen insensitivity syndrome: a review

Rafael Loch Batista  1 , Elaine M Frade Costa  1 , Andresa de Santi Rodrigues  1   2 , Nathalia Lisboa Gomes  1 , José Antonio Faria Jr  1 , Mirian Y Nishi  1   2 , Ivo Jorge Prado Arnhold  1 , Sorahia Domenice  1 , Berenice Bilharinho de Mendonca  1   2
Affiliations
Review

Androgen insensitivity syndrome: a review

Rafael Loch Batista et al. Arch Endocrinol Metab. 2018 Mar-Apr.

Abstract

Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically under 3 phenotypes: complete (CAIS), partial (PAIS) or mild (MAIS). The androgen receptor gene has 8 exons and 3 domains, and allelic variants in this gene occur in all domains and exons, regardless of phenotype, providing a poor genotype - phenotype correlation in this syndrome. Typically, laboratory diagnosis is made through elevated levels of LH and testosterone, with little or no virilization. Treatment depends on the phenotype and social sex of the individual. Open issues in the management of androgen insensitivity syndromes includes decisions on sex assignment, timing of gonadectomy, fertility, physcological outcomes and genetic counseling.

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Conflict of interest statement

Disclosure: no potential conflict of interest relevant to this article was reported.

Figures

Figure 1
Figure 1. A schematic representation of androgen receptor gene and androgen receptor protein.
See this image and copyright information in PMC

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