Normal Spermatogenesis in a Man with Mutant Luteinizing HormoneBrief Report
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...
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| Veröffentlicht in: | The New England journal of medicine 2009-11, Vol.361 (19), p.1856 |
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| container_title | The New England journal of medicine |
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| creator | Achard, Caroline Courtillot, Carine Lahuna, Olivier Méduri, Géri Soufir, Jean-Claude Lière, Philippe Bachelot, Anne Benyounes, Hassani Schumacher, Michael Kuttenn, Frédérique Touraine, Philippe Misrahi, Micheline |
| description | 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. |
| doi_str_mv | 10.1056/NEJMoa0805792 |
| format | Article |
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| subjects | Androgens Cytochrome Dehydrogenases Families & family life Mutation Penis Spermatogenesis Testosterone |
| title | Normal Spermatogenesis in a Man with Mutant Luteinizing HormoneBrief Report |
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