ESPE Abstracts

Background: Dopamine beta-hydroxylase (DBH) deficiency is characterized by lack of sympathetic noradrenergic function. Affected individuals exhibit profound deficits in autonomic regulation of cardiovascular function. DBH deficiency is a congenital disorder; however, the diagnosis is not generally recognized until late childhood. In this report, we present a case with DBH deficiency leading to growth hormone deficiency.Case: A ten year old girl who has b...

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 presentatıon: He was admitted to our hospital with high serum calcium level (23 mg/dl). S...

Background: It is not an uncommon situation that newborns have normal serum Ca, P, Mg, ALP, and PTH levels despite low vitamin D. Serum vitamin D binding protein (VDBG) may play a role for this situation. However, there is no any study investigated the relationship between serum vitamin D and VDBP in postnatal period.Objective and hypotheses: The aim of this study is to examine the relationship between serum vitamin D level and VDBP in neonates who have ...