Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

doi:10.1210/jc.2015-1150

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Article

Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.

The Journal of clinical endocrinology and metabolism - 1 May 2015

Bayram Yavuz, Gulsuner Suleyman, Guran Tulay, Abaci Ayhan, Yesil Gozde, Gulsuner Hilal Unal, Atay Zeynep, Pierce Sarah B, Gambin Tomasz, Lee Ming, Turan Serap, Bober Ece, Atik Mehmed M, Walsh Tom, Karaca Ender, Pehlivan Davut, Jhangiani Shalini N, Muzny Donna, Bereket Abdullah, Buyukgebiz Atilla, Boerwinkle Eric, Gibbs Richard A, King Mary-Claire, Lupski James R

Abstract excerpt

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,...

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Identifiers

PMID: 25774885
DOI: 10.1210/jc.2015-1150
PMCID: PMC4422898

Genes

SOHLH1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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