Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations | Zendy

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

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

Author(s) -

Gamze Akkuş,

Leman Damla Kotan,

Erdem Durmaz,

Eda Mengen,

İhsan Turan,

Ayça Ulubay,

Fatih Gürbüz,

Bilgin Yüksel,

Tamer Tetiker,

A. Kemal Topaloğlu

Publication year - 2016

Publication title -

journal of clinical research in pediatric endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.566

H-Index - 35

eISSN - 1308-5735

pISSN - 1308-5727

DOI - 10.4274/jcrpe.3908

Subject(s) - kallmann syndrome , hypogonadotropic hypogonadism , fibroblast growth factor receptor 1 , phenotype , mutation , medicine , genetics , loss function , endocrinology , gene , biology , fibroblast growth factor , hormone , receptor , disease , covid-19 , infectious disease (medical specialty)

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research