ea0041ep248 | Clinical case reports - Pituitary/Adrenal | ECE2016
Berges-Raso Irene
, Gimenez-Palop Olga
, Caixas Assumpta
, Gabau Elisabeth
, Casamitjana Laia
, Capel Ismael
, Subias David
, Rigla Mercedes
Introduction: Kallmann Syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism with anosmia or hyposmia. It can be associated with X-linked ichthyosis (XLI) in a contiguous gene syndrome related to a Xp22.3 region deletion, which include KAL1 and STS genes.Case report: We report a case of a 32-year-old male with ichthyosis referred for evaluation of high height (2.07 m), overweight (BMI 29.6 kg/m2) ...