Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

Bayram, Yavuz; Gulsuner, Suleyman; GÜRAN, TÜLAY; ABACI, AYHAN; Yesil, Gozde; Gulsuner, Hilal; Atay, Zeynep; Pierce, Sarah; Gambin, Tomasz; Lee, Ming; Turan, SERAP; BÖBER, ECE; Atik, Mehmed; Walsh, Tom; Karaca, Ender; Pehlivan, Davut; Jhangiani, Shalini; Muzny, Donna; BEREKET, ABDULLAH; Buyukgebiz, Atilla; Boerwinkle, Eric; Gibbs, Richard; King, Mary-Claire; Lupski, James

doi:10.1210/jc.2015-1150

Homozygous Loss-of-function Mutations in SOHLH1 in Patients With Nonsyndromic Hypergonadotropic Hypogonadism

Atıf İçin Kopyala

Bayram Y., Gulsuner S., GÜRAN T., ABACI A., Yesil G., Gulsuner H. U., ...Daha Fazla

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, cilt.100, sa.5, 2015 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 100 Sayı: 5
Basım Tarihi: 2015
Doi Numarası: 10.1210/jc.2015-1150
Dergi Adı: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Marmara Üniversitesi Adresli: Evet

Özet

Context: Hypergonadotropic hypogonadism presents in females with delayed or arrested puberty, primary or secondary amenorrhea due to gonadal dysfunction, and is further characterized by elevated gonadotropins and low sex steroids. Chromosomal aberrations and various specific gene defects can lead to hypergonadotropic hypogonadism. Responsible genes include those with roles in gonadal development or maintenance, sex steroid synthesis, or end-organ resistance to gonadotropins. Identification of novel causative genes in this disorder will contribute to our understanding of the regulation of human reproductive function.