Endocrine Abstracts

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...

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...