Normal spermatogenesis in a man with mutant luteinizing hormone.
N Engl J Med
; 361(19): 1856-63, 2009 Nov 05.
Article
em En
| MEDLINE
| ID: mdl-19890128
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Espermatogênese
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Hormônio Luteinizante Subunidade beta
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Mutação
Limite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
N Engl J Med
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
França