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Related Experiment Video

Updated: May 20, 2026

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome

Published on: October 2, 2018

Androgen insensitivity syndrome.

Nicolás Mendoza¹, Miguel Angel Motos

¹Department of Obstetrics and Gynecology, University of Granada, Granada, Spain. nicomendoza@telefonica.net

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology

|July 21, 2012

Summary

Androgen insensitivity syndrome (AIS) is a genetic disorder affecting the androgen receptor (AR). Early diagnosis and treatment are crucial for managing symptoms and ensuring proper patient outcomes.

Area of Science:

Genetics
Endocrinology
Reproductive Medicine

Background:

Androgen insensitivity syndrome (AIS) arises from mutations in the androgen receptor (AR) gene.
AIS prevalence is estimated at 1 in 20,000–64,000 males for complete AIS (CAIS); partial AIS (PAIS) prevalence is unknown.
Symptoms vary widely, from infertility in phenotypically male individuals to primary amenorrhea in phenotypically female individuals, with ambiguous genitalia also observed.

Purpose of the Study:

To summarize the key aspects of Androgen Insensitivity Syndrome (AIS).
To highlight the diagnostic and management strategies for AIS.
To emphasize the importance of early diagnosis for PAIS patients.

Main Methods:

Genetic analysis to identify mutations in the AR gene.

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Clinical evaluation for phenotypic presentation and diagnosis.

Review of current treatment and management protocols for AIS.

Main Results:

Diagnosis is confirmed by identifying specific AR gene mutations.
Early diagnosis in PAIS is essential for sex assignment, treatment, and genetic counseling.
Treatment involves reinforcing sexual identity, gonadectomy planning, and hormone replacement therapy.

Conclusions:

Prognosis for CAIS is favorable with timely gonadectomy.
PAIS prognosis depends on genital ambiguity and psychosocial adjustment to assigned sex.
Comprehensive management is vital for individuals with AIS.