Role of the mutations Trp8 ⇒ Arg and Ile15 ⇒ Thr of the human luteinizing hormone β-subunit in women with polycystic ovary syndrome

• Published in: Fertility and sterility Vol. 71; no. 3; pp. 425 - 430
• Main Authors: ELTER, K, EREL, C. T, CINE, N, OZBEK, U, HACIHANEFIOGLU, B, ERTUNGEALP, E
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Science 01.03.1999
• Subjects: Adult; Biological and medical sciences; Female; Female genital diseases; Gynecology. Andrology. Obstetrics; Hormones - blood; Humans; Luteinizing Hormone - blood; Luteinizing Hormone - genetics; Medical sciences; Point Mutation; Polycystic Ovary Syndrome - blood; Polycystic Ovary Syndrome - genetics; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Prospective Studies; Tumors; Human; Beta-Peptide chain; Female sterility; Gonadotropin; Polycystic ovary; Female genital diseases; Polymerase chain reaction; Ovarian diseases; Gene amplification; Restriction fragment length polymorphism; Adenohypophyseal hormone; Cyst; Luteinizing hormone; Benign neoplasm; Mutation; Woman
• ISSN: 0015-0282; 1556-5653
• DOI: 10.1016/S0015-0282(98)00491-9

To evaluate the clinical significance of LH in the form of a mutant beta-subunit in women with polycystic ovary syndrome (PCOS). Prospective, controlled study. University hospital. Thirty healthy women and 30 women with PCOS. Clinical, ultrasonographic, and hormonal findings were used to define PCOS. Nucleotide mutations within codons 8 and 15 in the LH beta-subunit gene (Trp8 => Arg and Ile15 => Thr) were analyzed with the use of polymerase chain reaction and subsequent restriction fragment length polymorphism. Serum levels of gonadotropins, androgens, E2, and prolactin were determined, and the results of restriction fragment length polymorphism were analyzed. Five women in the control group and one woman in the PCOS group were found to be affected by the LHbeta gene mutations. No difference was observed in serum androgen and E2 levels between the affected women and 25 healthy women who were homozygous for the wild-type LH. However, women whose serum LH levels were < or = 5.1 mIU/mL had a higher risk of having mutant LH. The frequency of LH mutations in women with PCOS is similar to that in healthy women. The presence of the variant does not cause any significant change in serum levels of androgens and E2.