Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations


AKKUŞ G. , KOTAN L. D. , Durmaz E., Mengen E., TURAN İ. , Ulubay A., et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.9, ss.95-100, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 9 Konu: 2
  • Basım Tarihi: 2017
  • Doi Numarası: 10.4274/jcrpe.3908
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Sayfa Sayısı: ss.95-100

Özet

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.