PMID- 19890128
OWN - NLM
STAT- MEDLINE
DCOM- 20091113
LR  - 20131121
IS  - 1533-4406 (Electronic)
IS  - 0028-4793 (Linking)
VI  - 361
IP  - 19
DP  - 2009 Nov 5
TI  - Normal spermatogenesis in a man with mutant luteinizing hormone.
PG  - 1856-63
LID - 10.1056/NEJMoa0805792 [doi]
AB  - 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 Unite 854, University Paris South 11, France.
FAU - Courtillot, Carine
AU  - Courtillot C
FAU - Lahuna, Olivier
AU  - Lahuna O
FAU - Meduri, Geri
AU  - Meduri G
FAU - Soufir, Jean-Claude
AU  - Soufir JC
FAU - Liere, Philippe
AU  - Liere P
FAU - Bachelot, Anne
AU  - Bachelot A
FAU - Benyounes, Hassani
AU  - Benyounes H
FAU - Schumacher, Michael
AU  - Schumacher M
FAU - Kuttenn, Frederique
AU  - Kuttenn F
FAU - Touraine, Philippe
AU  - Touraine P
FAU - Misrahi, Micheline
AU  - Misrahi M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - N Engl J Med
JT  - The New England journal of medicine
JID - 0255562
RN  - 0 (Luteinizing Hormone, beta Subunit)
RN  - 3XMK78S47O (Testosterone)
RN  - 9002-67-9 (Luteinizing Hormone)
SB  - IM
MH  - Adult
MH  - Female
MH  - Humans
MH  - Luteinizing Hormone/deficiency/metabolism
MH  - Luteinizing Hormone, beta Subunit/*genetics
MH  - Male
MH  - *Mutation
MH  - Pedigree
MH  - Sequence Analysis, DNA
MH  - *Spermatogenesis
MH  - Testis/cytology
MH  - Testosterone/deficiency
EDAT- 2009/11/06 06:00
MHDA- 2009/11/17 06:00
CRDT- 2009/11/06 06:00
PHST- 2009/11/06 06:00 [entrez]
PHST- 2009/11/06 06:00 [pubmed]
PHST- 2009/11/17 06:00 [medline]
AID - 361/19/1856 [pii]
AID - 10.1056/NEJMoa0805792 [doi]
PST - ppublish
SO  - N Engl J Med. 2009 Nov 5;361(19):1856-63. doi: 10.1056/NEJMoa0805792.