Normal spermatogenesis in a man with mutant luteinizing hormone.
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.
Achard
Caroline
C
INSERM Unité 854, University Paris South 11, France.
Courtillot
Carine
C
Lahuna
Olivier
O
Méduri
Géri
G
Soufir
Jean-Claude
JC
Lière
Philippe
P
Bachelot
Anne
A
Benyounes
Hassani
H
Schumacher
Michael
M
Kuttenn
Frédérique
F
Touraine
Philippe
P
Misrahi
Micheline
M
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
D037101:Luteinizing Hormone, beta Subunit; D013739:Testosterone; D007986:Luteinizing Hormone