Androgen insensitivity syndrome: a review

• Autor(a) principal: Batista,Rafael Loch
• Data de Publicação: 2018
• Outros Autores: Costa,Elaine M. Frade, Rodrigues,Andresa de Santi, Gomes,Nathalia Lisboa, Faria Jr.,José Antonio, Nishi,Mirian Y., Arnhold,Ivo Jorge Prado, Domenice,Sorahia, Mendonca,Berenice Bilharinho de
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de Endocrinologia e Metabolismo (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972018000200227
• topic: Androgen insensitivity syndrome; androgen receptor; disorders of sex development; 46,XY DSD

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.