Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep246 | Calcium and Vitamin D metabolism | ECE2015

Hypocalcaemia due to 22q11.2 deletion syndrome diagnosed in adulthood

Vidal Maria Cabrer , Soler Guillermo Serra , Wos Marzena , Perez Maria Soledad Gogorza , Jimenez Inaki Arguelles , Povedano Santiago Tofe , Ribas Elena Mena , Fernandez Honorato Garcia , Macazaga Vicente Pereg

Introduction: Hypocalcaemia is present in half of the patients with 22q11.2 deletion syndrome (DiGeorge-velocardiofacial syndrome). Most of these cases are diagnosed during childhood.Case report: A 56-year-old man was evaluated for symptomatic hypocalcaemia after undergoing a left nephrectomy because of renal tumour. He had paraesthesia around his mouth and hands and Trousseau’s sign. His past medical history included high blood pressure, type 2 dia...

ea0041ep74 | Adrenal cortex (to include Cushing's) | ECE2016

Adrenal insufficiency due to X-linked adrenoleukodystrophy diagnosed in late adulthood

Soledad Gogorza Perez Maria , Serra Soler Guillermo , Jimenez Portilla Ana , Wos Marzena , Garcia Fernandez Honorato , Arguelles Jimenez Inaki , Tofe Povedano Santiago , Codina Marcet Mercedes , Mena Ribas Elena , Pereg Macazaga Vicente

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare condition presented mainly in males during childhood and early adulthood. It represents almost 10% of primary adrenal insufficiency (PAI) or Addison’s disease cases.Clinical case: A 67-year-old male was diagnosed at the age of 61 with PAI during testing for mesenteric paniculitis while admitted in Internal Medicine service. He was treated with hydrocortisone and referred to outpatient end...