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

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.

CASE PRESENTATION:

Herein, we report an adopted 16-year-old male presented with delayed puberty and micropenis. He had undergone surgery for bilateral undescended testes in childhood. He was normosmic, and the pituitary imaging was normal. However, hypogonadotropic hypogonadism and growth hormone deficiency were detected, associated with a heterozygous nonsense variant (c.1864 C>T, p.R622X) in FGFR1.

CONCLUSIONS:

FGFR1 variants are among the causes of IHH and KS, which are inherited in an autosomal dominant manner and can be associated with midline defects. It should also be kept in mind that CPHD may be associated with FGFR1 variants in a subject with normal olfactory function.

• Authors: İbrahim Mert Erbaş, Ahu Paketçi, Sezer Acar, Leman Damla Kotan, Korcan Demir, Ayhan Abacı, Ece Böber
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 33 Issue 12 Pg. 1613-1615 (Dec 16 2020) ISSN: 2191-0251 [Electronic] Germany
• PMID: 32853167 (Publication Type: Case Reports)
• Copyright: © 2020 İbrahim Mert Erbaş et al., published by De Gruyter, Berlin/Boston.

Chemical References

• FGFR1 protein, human
• Receptor, Fibroblast Growth Factor, Type 1

Topics

• Adolescent
• Humans
• Hypopituitarism (etiology, metabolism, pathology, surgery)
• Male
• Mutation
• Phenotype
• Receptor, Fibroblast Growth Factor, Type 1 (genetics)