Normal Spermatogenesis in a Man with Mutant Luteinizing Hormone  

Oleh:

Achard, Caroline ; Courtillot, Carine ; Lahuna, Olivier ; Meduri, Geri ; Soufir, Jean-Claude

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 361 no. 19 (Nov. 2009), page 1856-1863.
Topik: Spermatogenesis; Mutant Luteinizing Hormone

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2009.06 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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