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Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.


ABSTRACT: 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.Using a candidate gene approach, we screened 52 IHH/KS patients.We identified three novel (IVS3-1G>C and p.W2X, p.R209C) FGFR1 gene mutations. Despite predictive null protein function, patients from the novel mutation families had normosmic IHH without non-reproductive phenotype.These findings further emphasize the great variability of FGFR1 mutation phenotypes in IHH/KS.

SUBMITTER: Akkus G 

PROVIDER: S-EPMC5463295 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations.

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]

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