ESPE Abstracts

Introduction: Noonan syndrome (NS) is an autosomal dominant disorder that involving multiple organ systems, with an incidence of 1:1,000 to 1:2,500.The clinical features as short stature, dysmorphic facial features, congenital heart defects most commonly pulmonary valve stenosis, typical chest, cryptorchidism. The PTPN11 gene is located on the long arm of chromosome 12q24.1 and encodes for the non-receptor protein tyrosine phosphatase SHP-2 (SHP2), generating ...

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...

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...

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...