Screening Male Intracytoplasmic Sperm Injection Candidates for Mutations of the Follicle Stimulating Hormone Receptor Gene

Role of FSH in the regulation of spermatogenesis: clinical aspects

“…This suggests that the FSH receptor genotype is not a major determinant of fertility status in man. The above mentioned inactivating mutations of the FSH receptor remain a rare isolated cause of infertility restricted to five Finnish cases (Tapanainen et al ., 1997), as screening for these mutations in other parts of the world was unrewarding (Jiang et al ., 1998; Tuerlings et al ., 1998; Simoni et al ., 1999).…”

Variants in Follicle-Stimulating Hormone Receptor Gene in Infertile Brazilian Men and the Correlation to FSH Serum Levels and Sperm Count

“…Some authors have supposed the association of FSHR polymorphisms and male infertility with conflicting results (Table 5). Tuerlings et al 18 and Simoni et al 9 evaluated Ala307Thr and Asn680Ser polymorphisms of FSHR gene, respectively, in Dutch and German population, and the results showed that mutations of the FSHR do not play a pathogenic role in male idiopathic infertility. On the other hand, Ahda et al 17 also evaluated Ala307Thr, Asn680Ser, and À29 polymorphisms in German population, and the authors conclude that FSHR haplotype does not associate with different serum FSH levels, but it is differently distributed in normal and azoospermic men and that the A-Ala-Ser and the G-Thr-Asn allele might represent genetic factors contributing to phenotypic expression of severe spermatogenetic impairment.…”

“…7,8 The 2 most common SNPs in the coding region occur at nucleotide positions 919 (919A>G, Thr307Ala, and rs6165) and 2039 (2039G>A, Asn680Ser, and rs6166) in exon 10, in which A>G transitions cause amino acid exchange from threonine to alanine at codon 307 and from asparagine to serine at codon 680, respectively. 9 Several studies have investigated the possible association of these polymorphisms with idiopathic male infertility in different populations, 4,[9][10][11][12][13][14][15][16][17][18] but the results were not consistent.…”

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“…Furthermore, an inactivating point mutation of the FSH receptor gene has been reported in some men with elevated serum FSH concentrations and abnormal sperm parameters (18). In a study of 28 men with a high level of FSH, no mutations were found in the FSH receptor gene (19). Information on the genetic basis of male subfertility is important.…”