hrp0082p2-d2-546 | Puberty and Neuroendocrinology (1) | ESPE2014
Machado Angela
, Oliveira Maria Joao
, Borges Teresa
, Cardoso Helena
, Fonseca Paula
, Ribeiro Luis
, Goncalves Catarina
, Lemos Manuel
Background: Kallmann syndrome (KS) is a rare clinical entity, characterized by the association of hipogonadotropic hypogonadism and hypo/anosmia, with an estimated prevalence of 1:8000 in males and 1:40 000 in females.Method: Retrospective study of cases of KS diagnosed in paediatric age. Genetic analysis was performed by PCR and DNA sequencing of KAL1, FGFR1, GNRHR, GNRH1, PROK2, PROKR2, KISS1R, TAC3, TACR3, and FGF8 genes.Results...