Analysis of Inactivating Point Mutation of the Follicle Stimulating Hormone Receptor Gene in Korean Infertile Men / 대한남성과학회지

ABSTRACT

PURPOSE: Follicle stimulating hormone (FSH) is essential for normal gametogenesis. In females FSH is required for ovarian development and follicle maturation whereas in males FSH determines Sertoli cell number and normal spermatogenesis quantitatively and qualitatively. Recently, Tapanainen et al. (1) reported that an anactivating point mutation (C566T) of the FSH receptor gene in males suppressed spermatogenesis but did not cause azoospermia or absolute infertility. To study the significance of the C566T inactivating point mutation in male infertility, we examine the FSH receptor gene in men with azoospermia or oligozoospermia. MATERIALS AND METHODS: Peripheral blood was collected from each patient who had elevated serum FSH. To amplify a suitable segment of the FSHR gene containing nuceotide 566, primer flanking the region was used. And to screen individuals for the C566T mutation, PCR was performed for exon 7 of the FSH receptor gene in 58 patients. RESULTS: The 78-bp fragment containing nucleotide 566 was present in all patient, the PCR product in cleaved into fragments 51-bp and 27-bp by Bsm I digestion. No inactivating point mutations of FSH receptor gene was identified in men with azoospermia or oligozoospermia. CONCLUSIONS: Inactivating point mutation (C566T) of the FSH receptor is not a common cause of male infertility. However we cannot exclude point mutations in other regions of the FSH receptor gene in some patient with azoospermia or oligozoospermia.