Archives of Endocrinology and Metabolism ()

Androgen insensitivity syndrome: a review

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

DOI
https://doi.org/10.20945/2359-3997000000031
Journal volume & issue
Vol. 62, no. 2
pp. 227 – 235

Abstract

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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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