Department of Integrative Cancer Therapy and Urology, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
Endocr J. 2009;56(7):859-65. doi: 10.1507/endocrj.k09e-130. Epub 2009 Jun 24.
Dysfunction of the FSH receptor (FSHR) may be involved in some form of male infertility with azoospermia or oligozoospermia. We assessed the discrete codon combination with homo/heterozygous variation of the exon 10 in the FSHR gene.
The genotype of codon 307 and codon 680 were analysed in 352 patients with idiopathic male infertility and 145 men with proven fertility.
There was no significant difference in the distributions of each homozygous codon 307 or 680 between these two groups as reported in the literature. However, the population with heterozygous combinations Thr/Ala (codon 307) and Ser/ Asn (codon 680) comprised 26% (38/146) and 44.9% (157/343) in subjects with proven fertility and idiopathic infertile men, respectively. Moreover, the heterozygous genotype Thr/Ala-Ser/Asn was significantly increased in infertile patients compared with the controls. This finding showed that the combination of heterozygous FSHR can be responsible for male infertility.
FSH 受体（FSHR）功能障碍可能与某些无精子症或严重少精子症形式的男性不育有关。我们评估了 FSHR 基因外显子 10 中具有同/杂合变异的离散密码子组合。
分析了 352 例特发性男性不育症患者和 145 例生育能力正常男性的 FSHR 基因第 307 位和第 680 位密码子的基因型。
与文献报道的结果一致，这两组人群中每个 FSHR 基因第 307 位或第 680 位密码子的纯合子分布没有显著差异。然而，在生育能力正常的人群和特发性不育男性中，第 307 位密码子 Thr/Ala 和第 680 位密码子 Ser/Asn 的杂合组合分别占 26%（38/146）和 44.9%（157/343）。此外，与对照组相比，不育患者的 FSHR 杂合基因型 Thr/Ala-Ser/Asn 显著增加。这一发现表明，杂合的 FSHR 可能导致男性不育。
