• PMID: 21486420
• Gene Name: AR
• Condition: Oligozoospermic, asthenospermic, Male infertility
• Association: The results validate the concept that long stretches of CAG repeat may be associated with lower AR function with derangement of sperm production, and this may contribute to male infertility in Egyptian men.
• Mutation: CAG repeat polymorphism
• Population size: 65
• Population details: 65 (45 infertile men, 20 aged-matched fertile males as control)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Oligozoospermic, asthenospermic, Male infertility

CAG repeat length in androgen receptor gene and male infertility in Egyptian patients

Mosaad YM, Shahin D, Elkholy AA, Mosbah A, Badawy W.

The CAG repeat and its association with infertility has been debatable. Therefore, this study was planned to assess the distribution of CAG repeat expansion in Egyptian patients and to investigate its association with male infertility. Forty-five infertile men were eligible for the study in addition to 20 aged-matched fertile males as control. Semen analysis, scrotal sonography, assay of serum testosterone, follicle-stimulating hormone (FSH) and luteinising hormone (LH), and determination of the CAG repeat number within exon 1 of the androgen receptor (AR) gene were carried out. Statistically significant difference was found between infertile and control groups regarding sperm count, sperm motility, serum FSH level and CAG repeats (P < 0.05); statistically insignificant difference for the CAG repeats (P = 1.0) was found between oligozoospermic and asthenospermic groups; negative correlation was found between CAG repeat length and sperm count, and a positive correlation was found between CAG repeat length and serum FSH (P < 0.05). Our results validate the concept that long stretches of CAG repeat may be associated with lower AR function with derangement of sperm production, and this may contribute to male infertility in Egyptian men. CI - © 2011 Blackwell Verlag GmbH. FAU - Mosaad, Y M AU - Mosaad YM AD - Clinical Pathology Department, Mansoura University, Mansoura, Egypt. youssefmosaad@yahoo.com FAU - Shahin, D AU - Shahin D FAU - Elkholy, A A-M AU - Elkholy AA FAU - Mosbah, A AU - Mosbah A