Article
Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene.
BMJ case reports - 29 Jun 2012
Novo Ana, Guerra Isabel Couto, Rocha Felisbela, Gama-de-Sousa Susana, Borges Teresa, Cerqueira Rita, Tavares Purificação, Fonseca Paula
Abstract excerpt
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...
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