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

Bayram, Yavuz; Gulsuner, Suleyman; GÜRAN, TÜLAY; Abaci, Ayhan; Yesil, Gözde; Gulsuner, Hilal; Atay, Zeynep; Pierce, Sarah; Gambin, Tomasz; Lee, Ming; Turan, Serap; Bober, 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

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Bayram Y., Gulsuner S., GÜRAN T., Abaci A., Yesil G., Gulsuner H. U., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.100, no.5, 2015 (SCI-Expanded)

Publication Type: Article / Article
Volume: 100 Issue: 5
Publication Date: 2015
Doi Number: 10.1210/jc.2015-1150
Journal Name: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Bezmialem Vakıf University Affiliated: Yes

Abstract

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.