Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome.
J Pediatr Endocrinol Metab
; 35(10): 1306-1308, 2022 Oct 26.
Article
em En
| MEDLINE
| ID: mdl-35932482
ABSTRACT
OBJECTIVES:
Congenital hypogonadotropic hypogonadism combined with anosmia or hyposmia is considered Kallmann syndrome (KS). It is often accompanied by bone defects. CASE PRESENTATION Here, we report a girl and her mother with KS caused by a novel mutation in the fibroblast growth factor receptor 1 gene (FGFR1). Interestingly, the daughter presented syndactyly and oligodactyly of the feet.CONCLUSIONS:
The presence of bone malformations in a KS patient should direct the geneticist towards a search for specific mutations in FGFR1. Our finding contributes to enrich the spectrum of FGFR1 mutations in patients with KS.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Kallmann
/
Hipogonadismo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
Idioma:
En
Revista:
J Pediatr Endocrinol Metab
Ano de publicação:
2022
Tipo de documento:
Article