Ontology highlight
ABSTRACT:
SUBMITTER: Akkus G
PROVIDER: S-EPMC5463295 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Akkuş Gamze G Kotan Leman Damla LD Durmaz Erdem E Mengen Eda E Turan İhsan İ Ulubay Ayça A Gürbüz Fatih F Yüksel Bilgin B Tetiker Tamer T Topaloğlu A Kemal AK
Journal of clinical research in pediatric endocrinology 20161223 2
<h4>Objective</h4>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 associated phenotypes may enhance clinical management.<h4>Methods</h4>Using a candid ...[more]