Genetic analysis of three polymorphic sites of the luteinizing hormone beta-subunit gene in infertile Korean men with nonobstructive azoospermia.
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.
Lee
Suman
S
Genome Research Center for Reproductive Medicine and Infertility, CHA General Hospital, College of Medicine, Pochon CHA University, Seoul, South Korea. suman@cha.ac.kr
Kim
Nam Keun
NK
Kim
Hyun-Joo
HJ
Lee
Sook-Hwan
SH
Jeong
Hye-Jin
HJ
Cha
Kwang Yul
KY
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
D037101:Luteinizing Hormone, beta Subunit