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Article

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.

Journal of clinical research in pediatric endocrinology - 1 Jun 2017

Akkuş Gamze, Kotan Leman Damla, Durmaz Erdem, Mengen Eda, Turan İhsan, Ulubay Ayça, Gürbüz Fatih, Yüksel Bilgin, Tetiker Tamer, Topaloğlu A Kemal

Abstract excerpt

OBJECTIVE: The underlying genetic etiology of hypogonadotropic hypogonadism (HH) is heterogeneous. Fibroblast growth factor signaling is pivotal in the ontogeny of gonadotropin-releasing hormone neurons. Loss-of-function mutations in FGFR1 gene cause variable HH phenotypes encompassing pubertal delay to idiopathic HH (IHH) or Kallmann syndrome (KS). As FGFR1 mutations are common, recognizing mutations and...

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Source

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Identifiers

PMID: 28008864
DOI: 10.4274/jcrpe.3908
PMCID: PMC5463295

Genes

FGFR1
IHH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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