ESPE Abstracts

Background: Recently congenital hypothyroidism (CH) is increased,particularly mild forms. Current guidelines recommend initial levothyroxine (LT4) dose of 10–15 mcg/kg per day as soon as possible, if diagnosis is confirmed by serum test, even if FT4 concentration is normal and venous TSH concentration is >20 microUI/ml.Objective and hypotheses: The aim of our study was to evaluate the initial LT4 dose in newborn with congenital hypothyroidism, n...

Background: There is no knowledge of the energy metabolism in the presence of X chromosome aneuploidy or structural aberrations. Recently, an abnormal muscle metabolism was observed in girls with Turner syndrome (TS).Objective and Hypotheses: Resting energy expenditure was prospectively estimated by indirect spirometry in 92 short prepubertal girls at the start of GH therapy.Method: The diagnoses were TS (n=23), GH deficie...

Background: Several studies have suggested that vitamin D supplementation in early childhood is successful in decreasing the risk of type 1 diabetes (T1D) through a complex immunomodulatory role. However, Intervening in disease once clinical symptoms have appeared and autoreactive immune responses are active might be more challenging. Controlled trials with vitamin D supplementation in recent-onset T1D have shown mixed results.Objective and hypotheses: T...

Background: Prolor Biotech, Inc. is a clinical stage public company developing long acting therapeutic proteins utilizing a technology called CTP. The technology involves fusion of the C-terminus peptide of hCG, which is a highly O-glycosylated peptide, to the target protein. Manufacturing process was developed to generate a reproducible highly glycosylated CTP-modified long-acting hGH (MOD-4023), which supports a single weekly injection in GH deficient patients. MOD-...

Background: Although multiple imprinting defects have been found by genetic analysis in a subset of patients with Beckwith–Wiedemann Syndrome (BWS), very few patients have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects.Methods: Methylation analysis of the KCNQ1OT1 gene was performed by Southern blot, methylation analysis of the GNAS region was done by MLPA.<p class="abs...

Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.Method: Descriptive retrospective study of our population with genetic confirmation.Resu...

Background: Long standing GH deficiency (GHD) causes loss of muscle mass. DXA enables the measurement of LBMDXA but is accompanied with a potentially harmful X-ray exposition. BIA measures the electric resistance of the body which correlates with LBM. A comparison of both methods in children with GHD has not been performed yet.Aim: Calculation of a regression formula for LBM using resistance and anthropometry based on LBMDXA in chil...

Background: Dyslipidaemia is a well-known risk factor in developing cardiovascular disease (CVD) already in childhood.Objective and hypotheses: To investigate the clustering of cardiovascular risk-factors (anthropometric parameters, blood pressure and metabolic abnormalities) in different type of dyslipidaemia in children and adolescents.Method: All the subjects aging 2–18 years referred for dyslipidaemia to our endocrine outp...

Background: Craniopharyngiomas are rare suprasellar tumours with good survival but high endocrine morbidity. The commonest endocrinopathy is GHd which can precede diagnosis. Later obesity (BMI >+2SDS) may be treatment or tumour related.Objective and hypotheses: To evaluate endocrinopathy, height, weight and BMI outcomes after a conservative surgical treatment strategy with pre-treatment pituitary provocation tests for children diagnosed between 2009 ...

Background: Hypothyroidism is a common problem during childhood generally due to autoimmune thyroid disease. It can also occur in case of severe loss of serum proteins, as well as in the case presented. The most accepted practice in the treatment of hypothyroidism consists in the oral administration of LT4. Many conditions may affect the absorption of LT4.Case presentation: We report an original case of LT4 malabsorption ...