• PMID: 19890128
• Gene Name: LHB
• Condition: Infertility
• Association: The study concludes 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), is sufficient for complete and
• Mutation: nine­base deletion in exon 2, resulting in a deletion of amino acids 10 to 12 (histidine–proline–isoleucine) in LHb
• Population size: 5
• Population details: 2 affected, 3 normal
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Absence of virilization, oligomenorrhea, secondary amenorrhea

Normal spermatogenesis in a man with mutant luteinizing hormone

Achard C, Courtillot C, Lahuna O, Méduri G, Soufir JC, Lière P, Bachelot A, Benyounes H, Schumacher M, Kuttenn F, Touraine P, Misrahi M.

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. CI - Copyright 2009 Massachusetts Medical Society. FAU - Achard, Caroline AU - Achard C AD - INSERM Unité 854, University Paris South 11, France. FAU - Courtillot, Carine AU - Courtillot C FAU - Lahuna, Olivier AU - Lahuna O FAU - Méduri, Géri AU - Méduri G FAU - Soufir, Jean-Claude AU - Soufir JC FAU - Lière, Philippe AU - Lière P FAU - Bachelot, Anne AU - Bachelot A FAU - Benyounes, Hassani AU - Benyounes H FAU - Schumacher, Michael AU - Schumacher M FAU - Kuttenn, Frédérique AU - Kuttenn F FAU - Touraine, Philippe AU - Touraine P