Internal medicine

Phenotype

Complete androgen insensitivity syndrome

Androgen

Androgen insensitivity syndrome

Prostate cancer

Bioinformatics

Androgen receptor

Biology

Gene

Cancer

Endocrinology

Genotype

Allele

Genotype-phenotype distinction

Virilization

Testosterone (patch)

Exon

Genetics

Sexual differentiation

Hormone

Medicine

Archives of Endocrinology and Metabolism

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.

Androgen insensitivity syndrome: a review