A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency


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ERBAŞ İ. M., Paketci A., Acar S., KOTAN L. D., DEMİR K., ABACI A., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.12, pp.1613-1615, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 12
  • Publication Date: 2020
  • Doi Number: 10.1515/jpem-2020-0029
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.1613-1615
  • Keywords: FGFR1, hypopituitarism, pubertal delay, short stature, KALLMANN-SYNDROME, HYPOGONADOTROPIC HYPOGONADISM, MUTATIONS, RECEPTOR, DEFECTS
  • Dokuz Eylül University Affiliated: Yes

Abstract

Objectives: Variants in fibroblast growth factor receptor-1 (FGFR1) may either cause isolated hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS). Although the relationship of genes classically involved in IHH with combined pituitary hormone deficiency (CPHD) is well established, variants in FGFR1 have been presented as a rare cause of this phenotype recently.