The luteinizing hormone β-subunit exon 3 (Gly102Ser) gene mutation is rare in Korean women with endometriosis and polycystic ovary syndrome

Abstract

Luteinizing hormone (LH) is important in the stimulation of follicle growth and maturation of the oocyte. It has a central role in promoting spermatogenesis and ovulation by stimulating the testes and ovaries, respectively, for steroid synthesis. Abnormal LH secretion induces anovulation, luteal insufficiency, and premature oocyte maturation, leading to menstrual disorders, polycystic ovary syndrome (PCOS), recurrent miscarriage, and infertility (1, 2). The mutation in exon 2 of the gene, altering two codons (8 and 15) to the same as those seen in hCG, was identified in both healthy and infertile patients (3, 4); however, the evaluation of their infertility was not completely characterized. Recently, it has been suggested that another variant, with a single missense mutation in exon 3 of the LHβ-subunit gene (LHβ3), replaced Gly102 (1502G) with Ser102 (1502A), to be associated with female infertility (1, 5, 6). Three Southeast Asian populations (Chinese, Malays, Indians) of the LHβ3 variants recently were studied by Ramanujam et al. (5), who found the variant only in the Chinese of Singapore. The LHβ3 variant was not reported in Korean endometriosis, PCOS patients, or healthy fertile women.