Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

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

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.9, no.2, pp.95-100, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 2
  • Publication Date: 2017
  • Doi Number: 10.4274/jcrpe.3908
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.95-100
  • Keywords: Hypogonadotropic hypogonadism, FGFR1 mutations, Kallmann syndrome, reduced penetrance, GROWTH-FACTOR RECEPTOR-1, KALLMANN-SYNDROME, GENETICS, EXPRESSION, DIAGNOSIS, CELLS
  • Çukurova University Affiliated: Yes

Abstract

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.