ESPE Abstracts

Background: Hypophosphatemic rickets is a clinical picture with inadequate bone mineralization that develops following renal phosphate loss. One of the most common complications in this group of patients is nephrocalcinosis. However, the mechanisms causing nephrocalcinosis are not clear.Objective and hypotheses: The aim of our study was to define the risk factors affecting the development of nephrocalcinosis, which is reported to be seen at a rate of 50%...

Background: Children with growth hormone deficiency (GHD) may experience physiological symptoms as well as social and emotional problems.Objective and hypotheses: This qualitative study explored the burden of GHD and treatment for children and their parents.Method: 70 interviews were conducted with 39 children (age 8–12) and 31 parents of children with GHD (age 4–12) in Germany, UK and USA. Interviews were analysed using ...

Background: Congenital Hyperinsulinism (CHI) is a common cause of persistent hypoglycaemia in the neonatal and infant period. It is most commonly caused by mutations in one of the KATP channel subunits, either SUR1 encoded by the gene ABCC8 or Kir6.2 encoded by the gene KCNJ11. Patients carrying mutations in the ABCC8 and KCNJ11 genes simultaneously have not been reported yet.Objective and hypotheses: Our aim was to describe the clinical pheno...

Background: Nutritional rickets continues to be an important health care problem. Its incidence has decreased in our country following the free vitamin D distribution that started in 2005 but it continues to stay on the agenda as a preventable disorder.Aim: Our aim was to evaluate patients diagnosed with nutritional rickets following the vitamin D supplementation program.Method: We evaluated patients diagnosed with nutritional rick...

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases caused by a deficiency of enzymes responsible for the steroidogenesis. The most common cause is 21-hydroxylase deficiency. There are three forms of CAH due to 21-hydroxylase deficiency: the classic form with salt loss, the classic virilizing and the non-classical form. In pediatric age, CAH is most often manifested by masculinization of the genitals of female newborns, adrenal crisis or premature p...

Despite significant advances in the medical management of childhood diseases, glucocorticoids (GCs) continue to be the mainstay of therapy for numerous serious conditions, including hematological malignancies, Duchenne muscular dystrophy (DMD) and inflammatory disorders. In order to understand the natural history of bone development in GC-treated children, a pan-Canadian longitudinal observational research study called "STOPP" (STeroid...

Background: Human scalp hair is a valuable matrix for determining long-term cortisol concentrations, with wide-spread applicability in clinical care as well as research. However, pediatric reference intervals are lacking.The aim of this study is to establish age-adjusted reference intervals for hair cortisol in children aged 0-18 years and to gain insight into hair-growth velocity in children up to 2 years old.Methods: A...

Introduction: in countries with highly developed health information systems (HIS), early detection of short stature (SS) is facilitated by automated anthropometric calculations, with warning alarms and automated referrals when prespecified conditions are met (poor growth velocity etc.). In countries where available HIS resources are insufficient for implementation of complex automated systems for growth supervision, much simpler, graphical-based growth electro...

Keywords: Human Leukocyte Antigen system, DRB1 allelesDiabetes mellitus is one of the diseases, the genetics of which has been most widely studied. In 40-50 % cases it is connected with Human Leukocyte Antigene system. The major genetic deterninants of this disease are DQ and DR genes "DR3" and "DR4" haplotypes create high risk for diabetes.Insulin dependent diabetes mellitus risk is very high a...

Pediatric differentiated thyroid carcinoma (DTC), which includes papillary (PTC) and follicular thyroid carcinoma (FTC), has an excellent prognosis (15-year survival rates >95%). The initial treatment in children generally consists of a (near) total thyroidectomy, followed by ablation therapy with radioiodine (131-I), nowadays, the latter often depends on risk stratification. TSH suppressive therapy with thyroid hormone has for decades been administered during follow-up to...