title: Normal spermatogenesis in a man with mutant luteinizing hormone.
abstract: Men with mutations in LHB, the gene encoding the beta subunit of luteinizing hormone (LHB), have azoospermia with absent or few fetal Leydig cells. We report a mutation in LHB in a man and his sister. The man presented with absence of virilization, undetectable luteinizing hormone, and a low serum testosterone level. He had complete spermatogenesis with a normal sperm count. The mutant luteinizing hormone had a low level of partial activity in vitro. We concluded that the residual luteinizing hormone activity, resulting in the expression of steroidogenic enzymes in few mature Leydig cells producing small amounts of intratesticular testosterone (20.2 ng per gram), was sufficient for complete and quantitatively normal spermatogenesis.
authors.affiliation: INSERM Unité 854, University Paris South 11, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Achard
authors.forename: Carine
authors.initials: C
authors.lastname: Courtillot
authors.forename: Olivier
authors.initials: O
authors.lastname: Lahuna
authors.forename: Géri
authors.initials: G
authors.lastname: Méduri
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Soufir
authors.forename: Philippe
authors.initials: P
authors.lastname: Lière
authors.forename: Anne
authors.initials: A
authors.lastname: Bachelot
authors.forename: Hassani
authors.initials: H
authors.lastname: Benyounes
authors.forename: Michael
authors.initials: M
authors.lastname: Schumacher
authors.forename: Frédérique
authors.initials: F
authors.lastname: Kuttenn
authors.forename: Philippe
authors.initials: P
authors.lastname: Touraine
authors.forename: Micheline
authors.initials: M
authors.lastname: Misrahi
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007986:Luteinizing Hormone / Q000172:deficiency / Q000378:metabolism; D037101:Luteinizing Hormone, beta Subunit / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D013091:Spermatogenesis; D013737:Testis / Q000166:cytology; D013739:Testosterone / Q000172:deficiency
chemical_list: D037101:Luteinizing Hormone, beta Subunit; D013739:Testosterone; D007986:Luteinizing Hormone