Yayınlanmış 1 Ocak 2017
| Sürüm v1
Dergi makalesi
Açık
Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations
Oluşturanlar
- 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
Açıklama
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.
Dosyalar
10-4274-jcrpe-3908.pdf
Dosyalar
(505.6 kB)
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