Endocrine Abstracts

Hereditary vitamin D-resistant rickets (HVDRR) is a rare recessive genetic disorder caused by mutations in the VDR that result in end organ resistance to 1,25-(OH)2D3 action. Here, we describe a patient with HVDDR with severe alopecia and rickets. Patient was 3 years old male presenting with gait disorder. He had hypocalcemia (8 mg/dl), secondary hyperparathyroidism (1232 pg/ml), and elevated serum alkaline phosphatase (661 U/l) and 1,25-dihydroxyvitamin ...

Introduction: Congenital hyperinsulinism (CHI), is the most frequent cause of persistent hypoglycemia in infancy. Mutations in the ABCC8 gene are responsible for 40–50% of CHI cases. Its management can be extremely complicated. The main goal of the treatment is to maintain normoglycemia, since hypoglycemia during infancy can have severe neurological consequences. Herein, we report 8 year follow up of twin patients who were diagnosed with CHI at neonatal period due to SUR1...

The combination of acute pancreatitis (AP), severe hypertriglyceridemia (HTG), and diabetic ketoacidosis (DKA) possess a life-threatening triad. The pathogenesis of HTG is explained by insulin deficiency, but although DKA is a frequent complication in children and adolescents, this triad is rare. We report a 10-year-old girl with Type 1 Diabetes Mellitus (DM) for 10 months, who presented with DKA, severe HTG and AP. Her serum was lipemic. She had HTG (1733 mg/dL) and severe ab...