title: Genetic analysis of three polymorphic sites of the luteinizing hormone beta-subunit gene in infertile Korean men with nonobstructive azoospermia.
abstract: OBJECTIVE
  To investigate the genetic background of nonobstructive male factor infertility.
  
  
  METHODS
  Clinical and controlled study.
  
  
  METHODS
  Ninety-five nonobstructive male infertile patients (75 with azoospermia, 18 with oligoasthenoteratozoospermia, and two with oligozoospermia) and 200 healthy fertile control men.
  
  
  METHODS
  Patients were investigated for genetic background including karyotype, Yq chromosome deletion, and three polymorphisms of the LH beta-subunit gene (Trp8Arg, Ile15Thr, and Gly102Ser).
  
  
  METHODS
  To determine three polymorphisms of the LH beta-subunit gene.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University, Seoul, South Korea. suman@cha.ac.kr
authors.forename: Suman
authors.initials: S
authors.lastname: Lee
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
authors.forename: Hyun-Joo
authors.initials: HJ
authors.lastname: Kim
authors.forename: Sook-Hwan
authors.initials: SH
authors.lastname: Lee
authors.forename: Hye-Jin
authors.initials: HJ
authors.lastname: Jeong
authors.forename: Kwang Yul
authors.initials: KY
authors.lastname: Cha
mesh_terms: D000328:Adult; D041322:Chromosomes, Human, Y; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007713:Klinefelter Syndrome / Q000235:genetics; D007723:Korea; D037101:Luteinizing Hormone, beta Subunit / Q000235:genetics*; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D037101:Luteinizing Hormone, beta Subunit