Androgen insensitivity syndrome
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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
E34.50 – Androgen insensitivity syndrome, unspecified
SNOMEDCT:
12313004 – Androgen resistance syndrome
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Last Updated:10/12/2022