Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

AKKUŞ G., KOTAN L. D., Durmaz E., Mengen E., TURAN İ., Ulubay A., ...Daha Fazla

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.9, sa.2, ss.95-100, 2017 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9 Sayı: 2
  • Basım Tarihi: 2017
  • Doi Numarası: 10.4274/jcrpe.3908
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.95-100
  • Anahtar Kelimeler: Hypogonadotropic hypogonadism, FGFR1 mutations, Kallmann syndrome, reduced penetrance, GROWTH-FACTOR RECEPTOR-1, KALLMANN-SYNDROME, GENETICS, EXPRESSION, DIAGNOSIS, CELLS
  • Çukurova Üniversitesi Adresli: Evet

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.