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Androgen insensitivity syndrome
Other Resources UpToDate PubMed

Androgen insensitivity syndrome

Contributors: Marilyn Augustine MD
Other Resources UpToDate PubMed

Synopsis

An X-linked inherited disorder of sex development caused by mutations in the AR gene, presenting with a spectrum of defects in androgen activity. It presents at birth due to impaired masculinization of genitalia in utero, and at puberty with impairment of secondary sex characteristics. It impacts genetically male persons (with Y-chromosome) with a range of feminizing characteristics, from mostly female to both male and female sex characteristics. Symptomatic treatment includes counseling, hormone replacement therapy, and surgical procedures.

Codes

ICD10CM:
E34.50 – Androgen insensitivity syndrome, unspecified

SNOMEDCT:
12313004 – Androgen resistance syndrome

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Last Updated:10/12/2022
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Androgen insensitivity syndrome
A medical illustration showing key findings of Androgen insensitivity syndrome (Adult)
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