Searchable abstracts of presentations at key conferences in endocrinology

ea0033p11 | (1) | BSPED2013

Succesfully modified intermittent i.v. calcium treatment in a patient with hereditary vitamin D resistant rickets with alopecia: presence of nonsense mutation in ligand binding domain of vitamin D receptor

Ersoy Betul , Kiremitci Seniha , Kitanaka Sachiko

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 ...

ea0039ep84 | Miscellaneous/other | BSPED2015

Congenital hyperinsulinism due to SUR1 (ABCC8) mutation in newborn twins: improvement of clinical outcome after eight years follow-up

Ersoy Betul , Tansug Nermin , Genc Abdulkadir , Kizilay Deniz , Kiremitci Semiha , Ayhan Semin , Lonlay Pascale D E

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...

ea0095p26 | Diabetes 1 | BSPED2023

Lipoprotein Lipase (LPL) gene mutation in a girl with diabetic ketoacidosis, acute pancreatitis and hypertriglyceridemia

Kilimci Duygu Duzcan , Bal Alkan , Ozkınay Ferda , Ersoy Betul

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...