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Definition

An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.

Acronym

AIS

Synonyms

Androgen receptor deficiency
Androgen resistance syndrome
AR deficiency
CAIS
Complete androgen insensitivity syndrome
DHTR deficiency
Dihydrotestosterone receptor deficiency
Testicular feminization syndrome
TFM

Keywords

Pseudohermaphroditism

 
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