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 ...

Background: Type 1 diabetes mellitus (T1DM) is a common autoimmune condition in childhood and may be complicated by episodes of diabetic ketoacidosis (DKA). DKA is a state of severe insulin deficiency, resulting in hyperglycemia, ketonemia, acidemia, and systemic inflammation. This is predominantly attributable to intracerebral complications. We report a girl with a newly diagnosed T1DM who presented with DKA and cerebral infarction.Case: A 13-year-old p...

Objective: Psychosocial problems which the obesity caused is one of the most important reasons that impede success of treatment. Researches indicate that, majority of all obese children have depression. In this study, the effect of obesity on state feeling (cognitive functions and socioemotional adaptation) were investigated in a different special test. To this end obese and nonobese young patients were compared by a special test determines the ability of mind and con...

Introduction: Primary osteoporosis (POP) is a rare and important problem in childhood that can cause serious skeletal deformities and morbidity. In this study, we aimed to reveal the spectrum of POP in childhood, and also to assess the effectiveness and safety of bisphosphonates in increasing BMD, reducing fractures, and improving quality of life.Method: Patients with POP and who received at least one course of pamidrona...

Introduction: Parathyroid adenoma (PRAD) is less common than in adulthood, but its morbidity is higher in children. The typical presentation is incidentally discovered as asymptomatic hypercalcemia. We aimed to evaluate the clinical characteristics of PRAD and our clinical experience since the early disease is often asymptomatic.Method: From 2010-2020, all children diagnosed with PRAD at our institution ...

Introduction: Chronic inflammation is closely associated with metabolic disorders such as obesity, insulin resistance and Type 2 DM, and is dependent on abnormal cytokine production and activation of inflammatory signaling pathways. Adipose tissue is a metabolically active organ that can be a source of low-grade chronic inflammation in obese individuals. Our aim in this study; to determine whether there are changes in proinflammatory and antiinflammatory cytok...

The stimulants that the mother is exposed during pregnancy may affect the baby in the future. Electromagnetic field exposure is an important external stimulus that we are subject to. In addition to the interaction of the earth and the sun with the magnetic field of man; nowadays the intensive use of electrical appliances, computers, mobile phones and internet, how electromagnetic field exposure may affect future generations will only occur in the continuation of our generation...

Background: Primary adrenal insufficiency other than congenital adrenal hyperplasia (non-CAH PAI) is very uncommon in children but associated with a variety of molecular defects. Biosynthesis of adrenocortical hormones is reduced although the relation of steroid profiles with underlying molecular etiology is not yet studied.Objective: Investigation of clinical and steroid hormone profiles of a multicenter cohort of child...