Luteinizing Hormone Beta Mutation and Hypogonadism in Men and Women  

Oleh:

Lofrano-Porto, Adriana ; Barra, Gustavo Barcelos ; Giacomini, Leonardo Abdala ; Nascimento, Paula Pires ; Latronico, Ana Claudia ; Casulari, Luiz Augusto ; Neves, Rocha

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 357 no. 09 (Aug. 2007), page 897.

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2007.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

Selective luteinizing hormone deficiency due to mutations in the luteinizing hormone beta-subunit gene (LHB) is a rare cause of hypogonadism. We describe the clinical features of a consanguineous family in which three siblings, two men and one woman, had hypogonadism related to isolated luteinizing hormone deficiency. These subjects have a newly discovered homozygous mutation of a 5' splice site in LHB: IVS2+1GC. This mutation disrupts the splicing of messenger RNA (mRNA), generating a gross abnormality in the processing of the luteinizing hormone beta-subunit mRNA, which abrogates the secretion of luteinizing hormone. We also determined that the female phenotype of this LHB mutation is characterized by normal pubertal development, secondary amenorrhea, and infertility.

Opini Anda

Klik untuk menuliskan opini Anda tentang koleksi ini!

Kembali