ESPE Abstracts

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

Spondyloepiphyseal dysplasia tarda (SEDT) is an inherited disorder that is diagnosed in childhood or adolescence presents with disproportionate short stature and premature osteoarthritis with frequently affecting men. Here, we described a novel nonsense mutation, c.508A>T; p.Lys170Ter, in TRAPPC2 in a Turkish patient with X-linked SEDT. The patient is a 15-year-old boy from Turkish non-consanguineous parents, presented decreasing height velocity last three years and also th...

Background and Objectives: N-terminal-pro hormone Brain Natriuretic Peptide (NT-proBNP) and hs-Troponin T (hs-TnT) are commonly used cardiac biomarkers despite lacking a deeper understanding about influencing parameters especially in the healthy pediatric population. We previously found associations between NT-proBNP and hs-TnT and a child´s age, sex, pubertal status, Body Mass Index (BMI) and serum lipid levels. Subsequently, we explored associations wi...

Introduction: After contact with the antigen, lymphocytes require activation for proliferation and differentiation into effector cells. Activation of lymphocytes results in the expression of activation markers. The CD69 antigen appears first on the surface of lymphocytes. This occurs one hour after receiving the activation signal. The CD69 molecule acts as a cellular stimulating signal, causing further activation and proliferation of cells, stimulating the syn...

Abstract: Hypoglycemia is a frequent and one of the major metabolic emergencies in any age, causing a significant dilemma to reach the correct diagnosis and perform the appropriate management. it Has potentially devastating consequences on brain development and cognitive functions. It Is a heterogeneous disorder with many different possible etiologies, including hyper-insulinism, glycogen storage diseases, fatty acid oxidation defects, hormonal deficiencies (g...

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Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

Background: Patients with congenital adrenal hyperplasia (CAH) are treated with life-long glucocorticoid (GC) replacement therapy. Negative effects on cognition, brain structure and function during working memory tasks have been identified. To date, no studies on functional connectivity during rest have been performed in patients with CAH. One study conducted on patients with Cushing’s syndrome, another disorder of cortisol imbalance, suggests that long-t...

Background: Recently, the first patients with resistance to thyroid hormone (RTHα) due to inactivating mutations in TRα1 have been identified. These patients are characterized by growth retardation, delayed bone development, mild cognitive defects, delayed motor development and abnormal thyroid function tests.Objective and hypotheses: We hypothesized that the phenotype of a TRα mutation depends on its location, e.g. if it is present only i...

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.<...