Korean J Androl.  1999 Aug;17(2):107-110.

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

• Lee HS
• Song GJ
• Cheon K
• Park YS
• Kim JW
• Kim JH
• Lee YS
• Seo JT

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.

Keyword

FSH receptor; Inactivating point mutation; Male infertility

MeSH Terms

Azoospermia
Cell Count
Digestion
Exons
Female
Follicle Stimulating Hormone*
Gametogenesis
Humans
Infertility
Infertility, Male
Male
Oligospermia
Point Mutation*
Polymerase Chain Reaction
Receptors, FSH*
Spermatogenesis
Follicle Stimulating Hormone
Receptors, FSH