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.
Highlights
Androgen Insensitivity Syndrome (AIS) is an X-linked genetic disease and it is the most common cause of disorders of sex development (DSD) in 46,XY individuals [1]
PAIS should be considered in all individuals with atypical genitalia at birth regardless of the degree of external genitalia virilization and MAIS is a possible diagnosis in males with persistent gynecomastia and or infertility [6]
Molecular diagnosis is achieved in almost all patients with CAIS and in a lower frequency in PAIS individuals
Summary
Androgen Insensitivity Syndrome (AIS) is an X-linked genetic disease and it is the most common cause of disorders of sex development (DSD) in 46,XY individuals [1]. AIS was first described by Morris, in 1953, with the clinical description of 82 female patients with testes but female phenotype and for this reason Morris named the syndrome as testicular feminization [4]. Later, this syndrome was characterized for being a condition resulting from a complete or partial resistance to androgens in 46,XY individuals with normal male gonad development [5]. PAIS should be considered in all individuals with atypical genitalia at birth regardless of the degree of external genitalia virilization and MAIS is a possible diagnosis in males with persistent gynecomastia and or infertility [6]. Androgen insensitivity syndrome androgen secretion and defects in the androgen receptor will compromise the virilization process
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