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2015•The International Encyclopedia of Human SexualityRequires access

Androgen Insensitivity Syndrome

Liuhong Cai

Open publisher page 6 citations

Abstract

Androgen insensitivity syndrome (AIS) is an X‐linked disorder caused by a defect in the androgen receptor in an individual with an XY karyotype. The symptoms range from phenotypically normal males with impaired spermatogenesis (mild AIS) to phenotypically normal women with primary amenorrhea (complete AIS, “testicular feminization”). Various forms of ambiguous genitalia have been observed at birth for PAIS. The diagnosis is confirmed by determining the exact defect in the AR gene. The treatment of AIS includes gender assignment, vaginoplasty, gonadectomy, and hormone replacement therapy.

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What this paper is about

Androgen insensitivity syndrome (AIS) is an X‐linked disorder caused by a defect in the androgen receptor in an individual with an XY karyotype. The symptoms range from phenotypically normal males with impaired spermatogenesis (mild AIS) to phenotypically normal women with primary amenorrhea (complete AIS, “testicular feminization”). Various forms of ambiguous genitalia have been observed at birth for PAIS. The diagnosis is confirmed by determining the exact defect in the AR gene. The treatment of AIS includes gender assignment, vaginoplasty, gonadectomy, and hormone replacement therapy.

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OpenAlex reports 6 citations for this work. Citation counts describe recorded attention and do not establish research quality.

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Available abstract

Androgen insensitivity syndrome (AIS) is an X‐linked disorder caused by a defect in the androgen receptor in an individual with an XY karyotype. The symptoms range from phenotypically normal males with impaired spermatogenesis (mild AIS) to phenotypically normal women with primary amenorrhea (complete AIS, “testicular feminization”). Various forms of ambiguous genitalia have been observed at birth for PAIS. The diagnosis is confirmed by determining the exact defect in the AR gene. The treatment of AIS includes gender assignment, vaginoplasty, gonadectomy, and hormone replacement therapy.

Key concepts: Androgen insensitivity syndrome, Testicular feminization, Primary amenorrhea, Androgen receptor, Complete androgen insensitivity syndrome, Karyotype, Disorders of sex development, Androgen

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