ESPE Abstracts

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...

Background: The gastrointestinal (GI) tract plays a central role in maintaining energy balance and body weight regulation. These functions are mediated by the secretion of gut hormones, including ghrelin, cholecystokinin (CCK), peptide YY(PYY), oxyntomodulin (OXM) and many other hormones. Some of them are orexigenic hormones that promote food intake, while others act as satiety signals and enhance insulin secretion from the pancreatic beta cells. Current evide...

Background: Ambulatory blood pressure monitoring (ABPM) permits the observation of blood pressure (BP) in a nonmedical environment. In adults, ABPM is better related to renal damage and cardiovascular morbidity than office BP readings. In early stages of type 1 diabetes (T1DM), the role of ABPM is still controversial.Objective and hypotheses: To detect blood pressure abnormalities using 24-h ABPM in children and adolescents with T1DM and to determine the...

The McCune–Albright syndrome can be a disease of striking complexity, the management of which can be challenging. However, an understanding of the physiologic consequences of the underlying molecular and developmental biology makes the evaluation and treatment of this disease relatively straightforward. MAS arises from activating mutations in the ubiquitously expressed cAMP-signaling protein, Gsα. The mutations occur very early in development, prior to gas...

Osteoclasts are bone-resorbing cells important in normal growth plate development and bone remodeling. The development of osteoclasts is potently driven by mononuclear RANK and osteogenic cell RANKL interaction. Denosumab is a monoclonal antibody drug that targets RANKL and inhibits osteoclastogenesis. It is a potent and effective treatment for pathologic processes that involve bone resorption, such as osteoporosis and bone metastases, conditions for which it is approved. Deno...

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"...