Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep248 | Clinical case reports - Pituitary/Adrenal | ECE2016

Kallmann syndrome and ichthiosis. A case of contiguous gene deletion syndrome

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) ...