ESPE Abstracts

Background: Congenital hypogonadotropic hypogonadism (HH) is a rare but clinically and genetically heterogeneous disease characterized by an absent or incomplete puberty and infertility. The association of HH with hyposmia or anosmia is defined as Kallmann syndrome. Molecular genetic testing of HH is valuable, as it can prompt the treatment in adolescence.Objective and hypotheses: To identify causative variants in genes associated with HH in a cohort of ...

Background: Resistance to thyroid hormones (RTH) is a rare disease, characterized by reduced sensitivity of target tissues to thyroid hormones. Pathognomonically, thyroid hormones are moderately elevated, whereas TSH levels are inappropriately normal or elevated. Over 100 thyroid hormone receptor beta (THRB) mutations have been reported, which are found in around 85% of RTH cases. Hypercholesterolemia was not previously reported in RTH patients....

Introduction: The start of GH (rhGH) treatment in children with GH deficiency (GHD) causes a significant increase in bone turnover and increases height velocity. The increase in IGF1 concentrations during rhGH treatment is a marker of the efficiency of treatment. A significant increase in bone turnover during rhGH treatment results in an increased demand for vitamin D. It is important to determine proper supplementation doses of vitamin D in patients during catch-up growth.</p...

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...

Background: Elastography is non-invasive ultrasound method of imaging based on estimation of mechanical properties (elasticity) of the tissue. Recent data has shown its ability to differentiate benign from malignant tumours. Decreased flexibility in comparison to around tissue is characteristic for malignant tissues, like most thyroid carcinoma (except follicular thyroid carcinoma). Analysis of the image gives the result presented as a ROI1/ROI2 index.Ob...

Background: Type 1 diabetes mellitus has three common presentations: Typical (hyperglycaemia with cardinal symptoms), ketoacidosis and asymptomatic hyperglycaemia.Case presentation: A 7.5-year-old girl with a history of bronchial asthma presented to the emergency department with acute-onset diabetic symptoms. The previous year she was admitted to the Paediatric Ward for a pneumonia complicated by pleural effusion. She then developed hyperglycemia (400 mg...

Introduction: The Glucagon-like Peptide(GLP1)-analogue liraglutide is the first drug approved for the treatment of obesity in adolescents in Europe. While clinically relevant effects of liraglutide treatment in adolescents with obesity had been shown in a phase III study, there are no reports about the use under real-life conditions in these patients. Our aim was to report the effect of treatment with liraglutide on body weight loss in a cohort of adolescents ...

Background: Decreasing age at the onset of puberty is observed worldwide, several countries report also increasing incidence trends of central precocious puberty (CPP), and some observed an importantly higher number of CPP cases during the COVID19 pandemic. Scarce data report also rising trends in isolated precocious adrenarche (IPA) and isolated precocious telarche (IPT).Objectives: To determine the national incidence a...

Introduction: Prader-Willi syndrome (PWS) is a rare congenital neurodevelopmental disorder characterized by hyperphagia, growth hormone (GH) deficiency, short stature, and low bone mineral density. The mechanisms concerning bone metabolism disturbances in these patients are still unclear. An important role in the process of bone formation is played by osteocalcin (OC), the most abundant non-collagen protein of the bone matrix. OC has three potential gamma-carb...

Hypoplastic left heart syndrome (HLHS) is one of the most severe congenital heart defects. Despite medical progress, HLHS patients remain at risk of many complications of this cardiac defect and cardiac surgery, including growth failure. Some of them can be treated with recombinant human growth hormone (rhGH) fulfilling criteria of GH–deficiency (GHD) or having a history of intrauterine growth restriction or small for gestational age (SGA). We assessed the effectiveness ...