ESPE Abstracts

Background: Obesity is a complex disease that have an impact of many organs and systems. Syndromic obesity, although rare separately, encompasses around 70 entities with different phenotypic expression, gene involvement and associated anomalies. There are many genes that can influence obesity, either monogenic or polygenic in basis. Children with syndromic obesity need additional testing in order to indentify a specific disorder. Metabolic set up and endocrinological disturban...

Introduction: GnRH test is standard in confirming the diagnosis of central precocious puberty (CPP). However, GnRH (Relefact) is not always readily available in Serbia and several other countries. Two studies so far have assessed use of triptorelin in diagnosing CPP, with different sampling protocols, and in only one of these studies were triptorelin test findings compared to GnRH test findings.Objective: To evaluate the diagnostic accuracy of triptoreli...

Background: Cystic fibrosis related diabetes (CFRD) is one of the most common complications of CF. CFRD has great impact on progressive deterioration of lung function, poor growth and increased mortality. The need for early detection of disturbance in glucose metabolism was recognized long ago. Current recommendations include screening that begins at age of 10 by performing oral glucose tolerance test (OGTT) but it cannot reveal the initial glucose disturbances. Many centres a...

Introduction: Hypophosphatasia (HPP) is the rare, inherited, metabolic disease with broad-ranging severity caused by inactivating mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. In the childhood form of HPP, there are mineralization defects of the bones and teeth, often with impaired physical function, muscle weakness, and decreased growth. We previously reported sustained radiographic improvement in rickets compared to historical controls in 5–1...

Introduction: Hypophosphatasia (HPP) is caused by inactivating mutation(s) within the gene for tissue nonspecific alkaline phosphatase (TNSALP). Patients with the perinatal and infantile forms of HPP suffer rickets, poor growth, and delayed gross motor function. In 2012, we detailed significant improvement in skeletal mineralization and respiratory function in such patients treated for 1 year with asfotase alfa, a bone-targeted recombinant human TNSALP,1 and recentl...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disorder resulting from loss-of-function mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency can cause a spectrum of complications in children including premature deciduous tooth loss, rickets, poor growth, and compromised physical function. We previously reported that children, 5–12 years old, with HPP and treated with asfotase alfa, a recombinant bone-targeted huma...

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare genetic condition characterised by generalised, partial target-tissue insensitivity to glucocorticoids owing to inactivating mutations of the NR3C1 gene.Case presentation: An 8.5-year-old boy was hospitalized because of precocious puberty and arterial hypertension. Over the last year, the appearance of pubic hair and gynecomastia were noted. At the local centre, high leve...

Idiopathic Ketotic Hypoglycemia (IKH) is the most common non-iatrogenic cause of hypoglycemia in children beyond infancy. The severity of the symptoms and frequency of hypoglycemic episodes may vary among the patients. The etiology of IKH is unclear; disturbances in gluconeogenesis, glycolysis and glycogenolysis were regarded as possible causes. Familial IKH recurrence is often observed, suggesting a genetic basis of glucose homeostasis dysregulation.We ...

Background: The risk of cardiovascular diseases is increased in girls with TS. The influence by combined GH and estrogen treatment on a condition of cardiovascular system is actively discussed.Objective and hypotheses: We performed this study to assess th effects of combined GH and estrogen treatment on lipid metabolism and systolic function of the left ventricle (LV) in girls with Turner syndrome without clinically relevant cardiac abnormalities.<p ...

Background: Carotenoids are potent antioxidants that affect many different metabolic processes. In plasma, carotenoids are transported with lipoproteins. Growth hormone deficiency (GHD) is known to induce oxidative stress and deterioration in the lipid profile, which can change the level and composition of carotenoids. Particularly interesting to measure these parameters in GHD children.Objective and hypotheses: The aim of this study is to examine the am...