What does this research mean for the field?

Androgen insensitivity syndrome (AIS) is a genetic disorder that affects 46,XY individuals, resulting in varying degrees of female physical characteristics despite the presence of male chromosomes. Novelty: ClaimNovelty.SYNTHESIS. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

This review aims to explore androgen insensitivity syndrome and its implications for diagnosis and management.

February 26, 2026

Androgen insensitivity syndrome

Key Points

This review aims to explore androgen insensitivity syndrome and its implications for diagnosis and management.
Examined pathophysiology of AIS
Described clinical presentations in complete, partial, and mild forms
Discussed diagnostic approaches
Outlined management strategies for multidisciplinary teams
Identified clear phenotypic variations in individuals with AIS
Highlighted the role of advanced practice nurses in recognizing and diagnosing AIS
Emphasized the need for a collaborative approach for effective management of AIS

Abstract

Androgen insensitivity syndrome (AIS) is a genetic disorder impacting 46,XY individuals. It occurs in a complete form, producing a 46,XY female with female genitalia but no internal female reproductive organs; a partial form, producing a 46,XY newborn with genitalia intermediate between the classic male and female types; and a mild form, producing a 46,XY male with male genitalia but oligospermia. This review examines the pathophysiology, presentation, diagnosis, and management of AIS. Its goal is to prepare the advanced practice registered nurse to recognize AIS, facilitate its diagnosis, and contribute to the multidisciplinary team needed for effective management.

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Androgen insensitivity syndrome

Key Points

Abstract

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