" /> Androgen insensitivity syndrome - CISMeF





Preferred Label : Androgen insensitivity syndrome;

Symbol : AIS;

CISMeF acronym : AIS; TFM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Androgen receptor deficiency; Dihydrotestosterone receptor deficiency; Testicular feminization syndrome; Dhtr deficiency; Ar deficiency; TFM;

Description : The androgen insensitivity syndrome is an X-linked recessive disorder in which affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal male 46,XY karyotype. Partial androgen insensitivity results in hypospadias and micropenis with gynecomastia (Reifenstein syndrome; 312300).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the androgen receptor gene (AR, 313700.0001);

Neoplasia : Sertoli cell adenomas; Seminomas; Malignant sex-cord stromal tumor;

Laboratory abnormalities : Elevated plasma follicle stimulating hormone (FSH); Normal-elevated plasma testosterone (male range); Elevated plasma estrogen; Elevated plasma luteinizing hormone (LH); Normal male karyotype (46,XY);

Prefixed ID : #300068;

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30/07/2025


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