title: Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene.
abstract: The Kallmann syndrome is characterised by the association of hypogonadotropic hypogonadism and hypo/anosmia. It represents a phenotypically and genotypically heterogeneous clinical entity, with six genes identified so far in the literature-KAL1, FGFR1, PROKR2, PROK2, CHD7 and FGF8. Mutations in the FGFR1 gene can be found in approximately 10% of the patients. The authors present the case of a female adolescent with hypogonadotropic hypogonadism and impaired olfactory acuity in the presence of hypoplasia of the nasal sulcus and agenesis of the olfactory bulbs. The molecular analysis of the fibroblast growth factor receptor 1 identified a heterozygous mutation c.1377_78insA (p.V460SfsX3) in exon 10 of FGFR1 gene. This mutation has not yet been reported in the literature. A theoretical review of clinical features and therapeutic approach of this syndrome is also presented.
authors: Department of Paediatrics, Centro Hospitalar do Porto, Porto, Portugal. anocas.novo@gmail.com
authors: Ana
authors: A
authors: Novo
authors: Isabel Couto
authors: IC
authors: Guerra
authors: Felisbela
authors: F
authors: Rocha
authors: Susana
authors: S
authors: Gama-de-Sousa
authors: Teresa
authors: T
authors: Borges
authors: Rita
authors: R
authors: Cerqueira
authors: Purificação
authors: P
authors: Tavares
authors: Paula
authors: P
authors: Fonseca
mesh_terms: D000293:Adolescent; D002648:Child; D004958:Estradiol / Q000627:therapeutic use; D004967:Estrogens / Q000627:therapeutic use; D005260:Female; D006579:Heterozygote; D006801:Humans; D017436:Kallmann Syndrome / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*
chemical_list: D004967:Estrogens; D004958:Estradiol; D051496:Receptor, Fibroblast Growth Factor, Type 1