Searchable abstracts of presentations at key conferences in endocrinology

ea0063p119 | Calcium and Bone 1 | ECE2019

Biochemical and clinical features of a family with a novel mutation of CYP24A1

Brancatella Alessandro , Cappellani Daniele , Kaufmann Martin , Borsari Simona , Jones Glenville , Marcocci Claudio , Cetani Filomena

Context: Mutations of cytochrome P450 24 subfamily A member 1 (CYP24A1) gene are associated with Idiopathic Infantile Hypercalcemia (IIH), a disease recently related to vitamin D catabolism impairment.Aim of the study: Report of clinical and biochemical features of a large family with a novel mutation of CYP24A1.Methods: We performed dosage of total calcium, ionized calcium, 24 h urinary calcium, PTH, 25-OH-Vitamin D (25-O...

ea0049ep1087 | Clinical case reports - Pituitary/Adrenal | ECE2017

A rare case of short-term postpartum primary adrenal insufficiency

Briner Myriam , Gattlen Christina , Kaindl Gunther , Kaufmann Martin Lukas , Zerkiebel Nic , Rudovich Natalia

Aims: Polyglandulare Autoimmune Sydnrome (PAS) is a rare disease and the development during pregnancy is seen even less often. PAS Type II presents with autoimmune adrenalitis and thyroiditis. Symptoms of adrenalitis such as hypotension and hyperpigmentation are overlapping with physiological manifestations during pregnancy making the diagnosis difficult.Clinical presentation: We are reporting the case of a 28-year old prima para prima gravida presenting...