• PMID: 17169197
• Gene Name: FSHR
• Condition: Azoospermia, Oligozoopsermia
• Association: Reproductive hormones were measured in infertile males and normozoospermic controls. No significant difference was found in allelic variants frequency and genotype distribution between each category of subjects when analysing the FSHR exon 10 SNP alone an
• Mutation: FSHR (SNP in exon 10 (codon 307 and 680) and in the core promoter region (at position -29))
• Population size: 574
• Population details: 574 (150 men representative of the general population, 107 proven fathers, 92 normozoospermic controls, and 215 infertile patients classified according to sperm parameters (38 azoospermia, 53 severe oligozoospermia, 48 moderate oligozoospermia, and 76 sli
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia, Oligozoopsermia

FSH receptor gene polymorphisms in fertile and infertile Italian men

Pengo M, Ferlin A, Arredi B, Ganz F, Selice R, Garolla A, Foresta C.

In women, single nucleotide polymorphisms (SNP) of the FSH receptor (FSHR) gene influence FSH concentrations and the sensitivity of the FSHR to FSH in vivo. In contrast, the significance of FSHR R gene SNP in the male is poorly understood. To this aim, the possible role of three FSHR SNP was evaluated in male infertility. SNP in exon 10 (codon 307 and 680) and in the core promoter region (at position -29) of the FSHR gene were analysed by polymerase chain reaction-restriction fragment length polymorphism technique in 150 men representative of the general population, 107 proven fathers, 92 normozoospermic controls, and 215 infertile patients classified according to sperm parameters (38 azoospermia, 53 severe oligozoospermia, 48 moderate oligozoospermia, and 76 slight oligozoospermia). Reproductive hormones were measured in infertile males and normozoospermic controls. No significant difference was found in allelic variants frequency and genotype distribution between each category of subjects when analysing the FSHR exon 10 SNP alone and in combination with the SNP at position -29. Serum FSH concentrations and other andrological parameters did not differ between subjects with different genotype within each group. The data showed that in the Italian population, FSHR genotypes have no influence on FSH concentrations both in normal and infertile males and do not associate with spermatogenetic impairment. FAU - Pengo, Manuel AU - Pengo M AD - University of Padova, Department of Histology, Microbiology and Medical Biotechnologies, Centre for Male Gamete Cryopreservation, Via Gabelli 63, 35121 Padova, Italy. FAU - Ferlin, Alberto AU - Ferlin A FAU - Arredi, Barbara AU - Arredi B FAU - Ganz, Francesco AU - Ganz F FAU - Selice, Riccardo AU - Selice R FAU - Garolla, Andrea AU - Garolla A