• PMID: 12620433
• Gene Name: LHB
• Condition: azoospermia, oligoasthenoteratozoospermia, oligozoospermia
• Association: Three variants of the LH beta-subunit gene (Trp8Arg, Ile15Thr, and Gly102Ser) may not be associated with male factor infertility. We found one homozygous Arg8 and Thr15 mutation in a patient with azoospermia with normal hormone levels (FSH, LH, PRL, T), a
• Mutation: LHB (Trp8Arg, Ile15Thr, and Gly102Ser)
• Population size: 295
• Population details: 295 (95 nonobstructive male infertile patients (75 with azoospermia, 18 with oligoasthenoteratozoospermia, and two with oligozoospermia), 200 healthy fertile control men )
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: azoospermia, oligoasthenoteratozoospermia, oligozoospermia

Genetic analysis of three polymorphic sites of the luteinizing hormone beta-subunit gene in infertile Korean men with nonobstructive azoospermia

Lee S, Kim NK, Kim HJ, Lee SH, Jeong HJ, Cha KY.

OBJECTIVE: To investigate the genetic background of nonobstructive male factor infertility. DESIGN: Clinical and controlled study. PATIENT(S): Ninety-five nonobstructive male infertile patients (75 with azoospermia, 18 with oligoasthenoteratozoospermia, and two with oligozoospermia) and 200 healthy fertile control men. INTERVENTION(S): Patients were investigated for genetic background including karyotype, Yq chromosome deletion, and three polymorphisms of the LH beta-subunit gene (Trp8Arg, Ile15Thr, and Gly102Ser). MAIN OUTCOME MEASURE(S): To determine three polymorphisms of the LH beta-subunit gene. RESULT(S): An abnormal karyotype was found in 11 of the 75 patients with azoospermia and one of the 18 patients with oligoasthenoteratozoospermia. Eleven (12%) had one or more deleted sites at 13 loci on Yq. The Gly102Ser variant of the LH beta-subunit gene was not detected at all. The frequency of double Trp8Arg and Ile15Thr heterozygotes was similar between the fertile (14.5%, n = 200) and infertile (12.6%, n = 95) groups, with the exception of one homozygous mutation (Arg8 and Thr15) from patient with azoospermia. CONCLUSION(S): Three variants of the LH beta-subunit gene (Trp8Arg, Ile15Thr, and Gly102Ser) may not be associated with male factor infertility. We found one homozygous Arg8 and Thr15 mutation in a patient with azoospermia with normal hormone levels (FSH, LH, PRL, T), a normal karyotype, and no Yq microdeletions. FAU - Lee, Suman AU - Lee S AD - Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University, Seoul, South Korea. suman@cha.ac.kr FAU - Kim, Nam Keun AU - Kim NK FAU - Kim, Hyun-Joo AU - Kim HJ FAU - Lee, Sook-Hwan AU - Lee SH FAU - Jeong, Hye-Jin AU - Jeong HJ