ESPE Abstracts

Background: While the risk for hypoglycemia during acute illness is well described in children with classical congenital adrenal hyperplasia (CAH), there is little evidence for the prevalence of asymptomatic hypoglycemia in CAH. We explored the glucose profile of children with classical CAH by the use of continuous glucose monitoring (CGM).Methods: We conducted an observational study in children aged 1-6 years with a dia...

Case Report: Patient 1: a 3.6-yr-old girl presented with very severe hypertriglyceridemia (serum triglyceride level >1000mg/dL) in random sampling in the first year of life. She presented with recurring episodes of abdominal pain, and splenomegaly. There is no history of consanguineous marriage. Maternal and paternal family had history of coronary events at an early age. A genetic panel showed homozygous variant chr8:19.953.365 C>T (p.Ala162Val) in the l...

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...

Introduction: Vitamin D (VitD) is a prohormone that is synthesized in the skin after sun exposure. Mandatory lockdown during the COVID-19 Pandemic may have altered the sun exposure time of children.Aim: to evaluate vitD levels in a sample of children and adolescents, and compare between pre-pandemic and pandemic periods.Methoths Children and adolescents, from a Portuguese tertiary ...

Background: Type 1 diabetes mellitus (T1DM) is an autoimmune disorder, which occurs mostly among children and adolescents. Armenia is a middle-low income country, where pediatric diabetic care is given centralized in three main centers. The 85-90% of diabetic children and adolescents are followed in the university hospital. During Covid-19 pandemic Armenia was under either lockdown or strict restrictions. The purpose of the current study is to assess the dynam...

Introduction: It is well known that low birth weight in children (born small for gestational age, SGA) predisposes them to the occurrence of obesity, insulin resistance (IR) and lipid disorders, observed even through the whole first decade of life. Thus, early diagnostics and prevention are very important. The HOMA index is used to assess insulin resistance (IRIHOMA). However, in some cases, high, prolonged postprandial insulin secretion is observed...

Introduction: Prolactin (Prl) - secreting cells and growth hormone (GH) - secreting cells are derived from the common somatomammotropic cells. Prl secretion depends primarily on the inhibitory effects of dopamine and the stimulatory effects of TRH and estrogens. The effects of other factors, especially the stimulation of the adrenergic system, are not well recognized. It is known that presynaptic stimulation of the alpha2-adrenergic receptor results in suppres...

Background: IPEX (OMIM #304790) is a rare and fatal, X-linked immune dysregulatory disorder caused by mutation in transcription factor FOXP3 that result in either quantitative or functional deficiencies of Tregs causing autoimmune disease and allergic inflammation. HSCT is the only curative therapy available for IPEX patients.Objective: Presented boy was born at 38th GW with birth weight 3380 g and birth length 50 cm. Three maternal brothers d...

Background: Transverse Myelitis (TM) is an auto-immune syndrome with neural injury to the spinal cord. The TM may be first clinical manifestation of Multiple Sclerosis (MS). It is known that Turner’s Syndrome (TS) is associated to the presence of autoimmune diseases.Case Report: A 15-year old female, began with manifestations of loss of strength on the lower limbs evolving rapidly with sensorial loss, tetraparesis and hemodynamic instability, requir...

Backgroud: Allogeneic haematopoietic stem cell transplantation (HSCT) is a potentially curative therapy for a variety of malignant and non-malignant disorders. With improved outcomes, increasing attention has been drawn to late complications in long-term survivors. Secondary cancer belongs to the most serious complications.Objective: Occurrence of secondary solid tumours at HSCT Unit, University Hospital Prague- Motol was analysed....