Endocrine Abstracts

Neonatal hypocalcaemia (NH) is a well described phenomena with values of 2–2.25 mmol/l seen at 24 h of age after the cessation of transfer of transplancental calcium. Levels then increase to normal by 2 weeks of life. Calcium levels below 2.0 mmol/l in infants >1.5 kg is considered to be pathological hypocalcaemia. The role of vitamin D in NH is unclear and not well studied in both neonate and mother.Aim: To present the features of neonates with...

Osteogenesis imperfecta (OI) is a disorder that affects bone material properties, mass and architecture, with resultant bone fragility. Most (85–90%) affected individuals have a mutation in one of the two genes encoding type I collagen (COL1A1/2), although mutations in 16 other genes have been identified that result in congenital bone fragility. Mother A presented in her sixth pregnancy, after having four previous first trimester miscarriages and one well infant. Early an...

Background: Hypercalcaemia is caused by many different conditions. Vitamin D intoxication with severe hypercalcemia is rare in the neonatal and infancy period. Here we described a 4-month-old male with severe hypercalcemia secondary to taking oral 600 000 units of vitamin D. He was diagnosed vitamin D 24-hydroxylase gene (CYP24A1) mutation after evaluation.Case presentation: He was admitted to our hospital with high serum calcium level (23 mg/dl). Serum ...