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Androgen receptor polymorphisms and mutations in male infertility
1Department of Obstetrics and Gynecology, National University of Singapore, Republic of Singapore. obgyel@nus.edu.sg
Journal of Endocrinological Investigation
|November 18, 2000
Summary
Genetic defects in the androgen receptor (AR) gene contribute to male infertility in up to 10% of affected men. Screening for AR gene mutations and polymorphisms is recommended for infertile males with low sperm counts.
Area of Science:
- Genetics
- Reproductive Biology
- Molecular Endocrinology
Background:
- Normal sperm production relies on genetic events regulated by sex chromosomes.
- The androgen receptor (AR) plays a crucial role in male reproductive functions.
Purpose of the Study:
- To investigate the role of genetic aberrations in the X-linked androgen receptor (AR) gene in male infertility.
- To identify mutations and polymorphisms in the AR gene in a large cohort of infertile men.
Main Methods:
- Genetic screening of over 400 infertile men and controls.
- Analysis of mutations and polymorphisms in the AR gene, focusing on the CAG trinucleotide repeat and ligand-binding domain.
Main Results:
- Defects in the AR gene were found in up to 10% of males with low sperm production and infertility.
- Identified mutations and polymorphisms, including CAG tract length variations and missense mutations, reduced AR activity.
- Reduced AR function was linked to impaired interactions with coactivator molecules.
Conclusions:
- Genetic screening for AR mutations and polymorphisms is advisable for severely oligospermic and azoospermic patients.
- Understanding AR gene defects aids in diagnosing male infertility and offers avenues for genetic counseling and rational hormonal therapy.