ESPE Abstracts

Objectives: The aims of this study were: (1) to evaluate the perception of children with GH Deficiency (GHD) and their parents, regarding their current and future predicted height, as well as the modulating factors; (2) to investigate the relation between perceptions of height and psychosocial functioning in children with GHD.Methods: The study group consists of 322 children/adolescents (219 boys) diagnosed with (isolated) GHD, treated with GH. The mean ...

Objectives: To describe the Health Related Quality of life (HrQoL) of children/adolescents with GH Deficiency (GHD) and to examine the effects of sociodemographic (i.e., patients’ age, sex and family socioeconomic status) and clinical characteristics (i.e. degree of short stature and duration of treatment) on HrQoL from patients’ and their parents’ perspectives. Associations between QoLISSY questionnaire and demographics were evaluated using Mann-Whitney or Krus...

Background: Hypophosphatemic rickets (HR) stands for a heterogenous group of rare disorders in which excessive renal phosphate wasting is observed. The main characteristics of X-linked HR (XLHR) (OMIM #307800) caused by mutation in PHEX (phosphate-regulating endopeptidase) gene (OMIM *300550) include bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. The patie...

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene and is characterized mainly by bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. Early treatment with vitamin D and phosphate improves the patient’s growth. Recombinan...

Background: Hypothalamic obesity is a form of obesity syndrome associated with a variety of hypothalamic disorders including intracranial tumors, infections, trauma, vascular problems and hydrocephalus and acquired or congenital functional defects in central energy homeostasis. The pathogenetic mechanisms underlying hypothalamic obesity are multifactorial. Weight gain results from the hypothalamus damage, which leads to excessive apetite and low metabolic rate, multiple pituit...

Introduction: In recent years, one of the most frequently studied focuses is the pathophysiology of adipose and muscle tissue; however, in the literature there is no report about regulatory proteins (myokines/adipomyokines), which expression affects the body’s metabolism and communication between tissues especially in children population. Irisin (Ir) is one of the adipomyokines, which induces the conversion of white adipocytes into beige adipose tissue, a...

Introduction: The tricho-rhino-phalangeal syndrome type 1 (TRPS 1), also known as Langer-Giedion syndrome, is an uncommon genetic disorder. This disease is characterized by short stature, cone-shaped ends of the long bones (epiphyses), and distinctive facial features linked to skeletal abnormalities since early childhood. The experience with recombinant growth hormone (rGH) therapy in TRPS 1 is relatively poor. The aim of the study is to present the results of...

Background: Pseudohypoparathyroidism is a rare congenital disorder presenting with variable symptoms and features. Since 2016 a new international nomenclature subclassifies the different forms of pseudohypoparathyreoidism as inactivating PTH/PTHrP signalling disorders (iPPSD). Pseudohypoparathyreoidism 1A (iPPSD2) and 1B (iPPSD3) are mainly characterized by resistance of parathyroid hormone (PTH) with high serum PTH levels and thyrotropin (TSH) resistance. In ...

Background: Children who were born small for gestational age (SGA) or with intrauterine growth restriction (IUGR) have increased risk of metabolic disorders such as insulin resistance, diabetes mellitus type 2 and coronary disease in adultness. Most of those children after catch-up growth achieve the same growth as their peers. Nevertheless 10 % of them persist finally short as adults. In the last decade some countries introduced the rhGH treatment to impr...

Introduction: In diabetes type 1 damage of pancreatic beta cells results in insulin deficiency and it can lead to many clinical and biochemical complications, including hypertriglyceridemia. Triglycerides level over 500mg/dl significantly increases the risk of acute pancreatitis which, in combination with ketoacidosis, can worsen the prognosis of patients.A case report: A 9 year old patient was admitted to the Pediatric ...