• PMID: 22421444
• Gene Name: FSHR
• Condition: Nonobstructive azoospermia, severe oligozoospermia, male infertility
• Association: In conclusion, the findings demonstrate that, in Brazilian population studied, genetic variations, Asn680Ser and Thr307Ala, of the FSHR gene are not correlated with serum FSH levels or sperm count in male infertility.
• Mutation: FSHR (A307T and N680S)
• Population size: 355
• Population details: 355 (138 infertile men (53 nonobstructive azoospermia, 85 severe oligozoospermia), 217 fertile men as controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Nonobstructive azoospermia, severe oligozoospermia, male infertility

Variants in follicle-stimulating hormone receptor gene in infertile Brazilian men and the correlation to FSH serum levels and sperm count

Ghirelli-Filho M, Peluso C, Christofolini DM, Gava MM, Glina S, Barbosa CP, Bianco B.

The aim of the study was to analyze the distribution of the follicle-stimulating hormone (FSH) receptor (FSHR) Ala307Thr and Asn680Ser polymorphisms in infertile Brazilian men and evaluate the possible role of these polymorphisms on the serum levels of FSH and in sperm count. A case-control study was performed comprising138 infertile men with nonobstructive azoospermia (n = 53) or severe oligozoospermia (n = 85), and 217 fertile men as controls. Genotyping of FSHR polymorphisms was performed by real-time polymerase chain reaction (PCR). The results were analyzed statistically and a P value <.05 was considered significant. According to the sperm count, relatively similar FSHR polymorphisms genotype and allele frequencies were found among the groups, and combined genotypes of 2 polymorphisms did not identify a haplotype associated with sperm count. Considering FSH serum level according to genotypes of the Ala307Thr and Asn680Ser polymorphisms individually, statistical analysis showed no difference among the groups. When the combined genotypes of the FSHR polymorphisms were compared to FSH serum levels, no difference was also found among the groups. In conclusion, the findings demonstrate that, in Brazilian population studied, genetic variations, Asn680Ser and Thr307Ala, of the FSHR gene are not correlated with serum FSH levels or sperm count in male infertility. FAU - Ghirelli-Filho, Milton AU - Ghirelli-Filho M AD - Division of Human Reproduction and Genetics, Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC - Santo André/SP-Brazil. FAU - Peluso, Carla AU - Peluso C FAU - Christofolini, Denise M AU - Christofolini DM FAU - Gava, Marcello M AU - Gava MM FAU - Glina, Sidney AU - Glina S FAU - Barbosa, Caio P AU - Barbosa CP