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Related Experiment Video

Updated: Jul 6, 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 receptor dysfunction in human androgen insensitivity.

¹The Department of Population Dynamics, Division of Reproductive Biology, Johns Hopkins University, School of Hygiene and Public Health, Baltimore, MD 21205, USA.

Trends in Endocrinology and Metabolism: TEM

|July 1, 1995

Summary

This summary is machine-generated.

Androgen insensitivity syndromes are caused by mutations in the androgen receptor gene, leading to impaired male development. Studying these mutations helps understand androgen receptor function and its role in sex differentiation.

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Area of Science:

Genetics
Molecular Biology
Endocrinology

Background:

Androgen insensitivity syndromes (AIS) are a group of disorders affecting male sex differentiation.
These conditions arise from molecular defects in the androgen receptor (AR) gene, causing resistance to androgens.
The AR gene is located on the X chromosome and encodes a crucial protein for male development.

Purpose of the Study:

To explore the spectrum of molecular lesions in the androgen receptor gene associated with AIS.
To investigate the structure-function relationships of the androgen receptor.
To leverage diverse mutations for insights into AR activity.

Main Methods:

Analysis of molecular lesions within the androgen receptor gene.
Characterization of mutations including missense, deletion, splice site, and nonsense mutations.
In vitro and in vivo expression studies of mutant androgen receptors in various cell types.

Main Results:

Missense mutations are the most frequent cause of AIS, followed by deletions, splice site alterations, and nonsense mutations.
A wide array of naturally occurring mutations in the AR gene have been identified.
These mutations correlate with diverse clinical phenotypes, indicating varied impacts on AR function.

Conclusions:

The diverse mutations in the androgen receptor gene provide a valuable resource for understanding AR structure-function.
Studying these mutations can elucidate the molecular mechanisms underlying male sex differentiation.
Further research into mutant ARs can inform therapeutic strategies for androgen-related disorders.