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Reminder of important clinical lesson
Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene
  1. Ana Novo1,
  2. Isabel Couto Guerra1,
  3. Felisbela Rocha2,
  4. Susana Gama-de-Sousa2,
  5. Teresa Borges3,
  6. Rita Cerqueira4,
  7. Purificação Tavares4,
  8. Paula Fonseca2
  1. 1Department of Paediatrics, Centro Hospitalar do Porto, Porto, Portugal
  2. 2Department of Paediatrics, Centro Hospitalar do Médio Ave, Unidade de Famalicão, Famalicão, Portugal
  3. 3Department of Paediatric Endocrinology, Centro Hospitalar do Porto, Porto, Portugal
  4. 4Department of Clinical Genetics, CGC Genetics/Centro de Genética Clínica, Porto, Portugal
  1. Correspondence to Dr Ana Novo, anocas.novo{at}

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.

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  • Competing interests None.

  • Patient consent Obtained.

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