Korean J Fertil Steril.  1998 Dec;25(3):281-286.

Analysis of Follicle Stimulating Hormone Receptor Gene Mutation in Korean

• Nam YS
• Kim NK
• Choi MJ
• Park SH
• Chung KW
• Lee SH
• Yoon TK
• Cha KY

Abstract

Premature ovarian failure is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women younger than 40 years. Many causes of premature ovarian failure were reported, including genetic abnormalities, enzymatic defects, defects in gonadotropin secretion or action, autoimmune disorders, physical and idiopathic causes. Recently, Finnish group reported a point mutation in the follicle stimulating hormone (FSH) receptor gene in premature ovarian failure patients. But it was reported that the group from United States could not find any mutation in FSH receptor gene. So we analysed C566T point mutation of FSH receptor gene using restriction fragment length polymorphism (RFLP) and compared the result between premature ovarian failure patient with idiopathic and known causes. But we did not find 556C-->T mutation in the FSH receptor gene in both groups. These findings suggest that the missense mutation in the human FSH receptor gene reported in Finnish women with premature ovarian failure is uncommon in Korean women with premature ovarian failure.

MeSH Terms

Amenorrhea
Female
Follicle Stimulating Hormone*
Follicle Stimulating Hormone, Human
Gonadotropins
Humans
Mutation, Missense
Point Mutation
Polymorphism, Restriction Fragment Length
Primary Ovarian Insufficiency
Receptors, FSH*
United States
Follicle Stimulating Hormone
Follicle Stimulating Hormone, Human
Gonadotropins
Receptors, FSH