ESPE Abstracts

Background: Prader-Willi syndrome (PWS) is a complex, multisystem disorder and is the most frequent cause of syndromic obesity that arises from lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. Its major clinical features include neonatal hypotonia, short stature, developmental delay, behavioral abnormalities, hyperphagia, childhood onset obesity, hypothalamic hypogonadism, and characteristic appearance.Case history: We ...

Background: Patients with Turner’s syndrome (TS) develop osteoporosis, resulting from chromosomal deficiency and estrogen deficiency by gonadal dysgenesis.Objective and hypotheses: The aim of this study was to assess bone mineral density (BMD) and parameters of bone remodeling during somatropin therapy in prepubertal girls with TS.Population and/or methods: We examined 22 girls with TS of the age of 11–15 years (the mean ...

Background: Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder arising from lack of expression of paternally inherited imprinted genes on chromosome 15q11–q13. Hyperphagia represents one of the most serious symptoms of the PWS, leading to develop premature mortality.Objective and hypotheses: To compare orexigenic (ghrelin) and anorexigenic factor (brain derived neurotrophic factor (BDNF)) concentration in non-GH-treated obese pati...

Adrenoleukodystrophy is an X-linked, inherited metabolic disorder. Here, we present 3 clinical cases of different phenotypes with one mutation in ABCD1 gene in one family.Patient 1: At the age of 9 years, manifestation of neurological symptoms was observed, skin color changed, these symptoms progressed monthly. MRI of the brain showed 13 points on Loes scale.During the examination, the diagnosis of X-linke...

Introduction: To date, there are no clear indications for surgical treatment of nodular goiter in children. Current scheme of diagnostic evaluation thyroid nodules in children is not always justified. A number of patients either go to the removal of thyroid remnants when a carcinoma is found in the histological examination and the need for radioiodine therapy, or are at risk of surgery if the results of the final histology show that the disease is benign.<p class="abstext"...

Purpose: To assess the prevalence of pancreatic autoantibodies (Ab) and their impact on the course of type 2 diabetes mellitus (DM2) in adolescents.Materials and methods: ICA, GADA, IA-2 and IAA were measured in 66 patients with DM2. Depending on the presence of autoantibodies (Ab) patients were divided into 2 groups: Ab- and Ab+. HLA-typing was carried out in 45 patients. The secretion of C-peptide in the standard carbohydrate brea...

Background: Mathematical models predicting final height (FH) and its standard deviation score (SDS) in children with growth hormone deficiency is an important tool for clinicians to manage treatment process. Previously developed models do not have enough accuracy or are not good enough for practical use.Objective and hypotheses: We used four binary and seven continuous predictors available at the time of diagnosis and start of therapy and developed multi...

Background/Aims: An increase in growth rate in children suffering from growth hormone deficiency (GHD) subjected to recombinant growth hormone treatment (rGHT) was shown to be accompanied by acceleration of metabolic processes that may stimulate hematopoiesis. Therefore, the aim of the present study was to examine the effects of one year rGHT on erythropoietin (EPO) and Granulocyte Macrophage Colony Stimulating Factor (GM-CSF) levels in GHD children.Meth...

Background: Testicular adrenal rest tumours (TARTs) are benign tumors consisting of cells with adrenal-like features in mediastinum of testes. TARTs occur in up to 94% of adult male patients with classic 21-hydroxylase deficiency and also have been described in patients with Cushing syndrome and acquired adrenal insufficiency. Poor disease control is thought to be one of the main predictive factors for TARTs development.Clinical case: A boy presented at ...

Background: Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, characterized by lack of synthesis of all kinds of steroids in adrenals and gonads due to defects in gene of Steroidogenic Acute Regulatory protein (StAR). 46,XX patients can have a spontaneous puberty due to residual estrogen synthesis by a StAR-independent pathway in ovary. Development of ovarian cysts may be derived from persistent anovulation and impairment o...