Androgen insensitivity syndrome: a review.

Area of Science:

• Endocrinology
• Genetics
• Reproductive Medicine

Background:

• Androgen insensitivity syndrome (AIS) is a disorder of sexual development (DSD) in 46 XY individuals.
• It stems from peripheral androgen resistance caused by androgen receptor mutations.
• The spectrum of phenotypes ranges from complete to mild, depending on hormone resistance severity.

Purpose of the Study:

• To review the etiopathogenesis, molecular alterations, and diagnostic-therapeutic management of AIS.
• To highlight the genetic basis and phenotypic variability of AIS.
• To emphasize the importance of accurate diagnosis and management strategies.

Main Methods:

• Literature review using the Pubmed database.
• Focus on etiopathogenesis, molecular alterations, and diagnostic-therapeutic management.
• Analysis of genetic mutations and their correlation with phenotypic presentation.

Main Results:

• AIS is caused by diverse X-linked mutations, leading to a wide phenotypic spectrum.
• Clinical suspicion can arise in infancy (partial AIS) or puberty (complete AIS).
• Diagnosis is confirmed by karyotype and androgen receptor sequencing; elevated LH and testosterone levels can be indicative.

Conclusions:

• Accurate diagnosis of AIS relies on genetic testing.
• Management decisions, particularly sex assignment, guide subsequent medical, surgical, and psychological care.
• A multidisciplinary team approach is crucial for supporting patients and families in gender identity choices and therapeutic decisions.