Published January 1, 2017
| Version v1
Journal article
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Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations
Creators
- 1. Cukurova Univ, Fac Med, Div Endocrinol, Adana, Turkey
- 2. Cukurova Univ, Fac Med, Div Pediat Endocrinol, Adana, Turkey
- 3. Izmir Univ, Fac Med, Div Pediat Endocrinol, Izmir, Turkey
- 4. Cukurova Univ, Fac Med, Dept Forens Med, Adana, Turkey
Description
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 associated phenotypes may enhance clinical management.
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