ESPE Abstracts

Keywords: Ulnar-mammary syndrome; TBX3 gene; Hypogonadotropic hypogonadism; Skeletal anomalies, PolydactylyBackground: Hypogonadotropic hypogonadism (HH) is an increasingly frequent medical condition deriving from a dysregulation of the hypothalamic-pituitary-gonadal axis function, which leads to low sex hormone levels associated with low gonadotropin levels. It can be congenital or acquired. Congenital HH, whose inciden...

Background: Protein-losing enteropathy (PLE) is a complex life-threatening complication that occurs in 5-15% of patients who undergo Fontan procedure to palliate a functional or anatomic single ventricle. Patients with PLE suffer from enteric protein loss, hypoproteinemia, hypoalbuminemia and electrolyte alterations. Enteral budesonide is widely recognized as the corticosteroid of choice to treat gut inflammation underlying PLE for its strong local anti-inflam...

Background: Intrauterine growth restriction (IUGR) is associated with higher risk of cardiometabolic disease. Perturbation of endoplasmic reticulum (ER) homeostasis activates a set of ER-to-nucleus signaling pathways known as unfolded protein response (UPR). We previously showed that IUGR is associated with the activation of hepatic UPR and abnormal glucose profile in male Sprague-Dawley rats. Herein, we report the impact of IUGR on pancreas UPR in the same ex...

Primary hyperparathyroidism is a condition characterized by one or more hyperfunctioning parathyroids leading to hypercalcemia and inappropriately normal or elevated levels of parathyroid hormone (PTH). Clinically it can occur asymptomatically or manifests with osteopenia, increased risk of pathological fractures, nephrolithiasis, gastrointestinal symptoms (vomiting, constipation, abdominal pain) or asthenia. We report the case of A.L.M, a 15-year-old female who went to the Em...

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...

Hashimoto encephalopathy is an autoimmune encephalopathy predominantly diagnosed in the adult population. In the pediatric population, the mean age is determined to be 14 years, with the majority of adolescent females. The diagnosis of Hashimoto encephalopathy is clinical and based on the highly variable neuropsychiatric conditions, often affecting more than one area of the central nervous system, the detection of antiperoxidase or antithyroglobulin antibodies in serum, and on...

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...