ESPE Abstracts

Background: Pseudohypoparathyroidism is a group of rare disorders characterized by tissue insensitivity to PTH and Albright hereditary osteodystrophy (AHO) due to inactivating mutations or epigenetic defects of the GNAS.Objective and hypotheses: Clinical features and molecular characteristics of patients with PHP have been examined.Method: We included 28 patients from 26 families with PHP1a and 1b. GNAS mutation analysis w...

Background: Short stature is a main feature of Noonan syndrome (NS). Although rhGH is commonly used in NS patients, it is not known whether a defect in the secretion of GH influences the response to rhGH therapy.Objective and hypotheses: The aim of this study was to evaluate the efficacy and safety of rhGH treatment in NS patients, according to the presence of GH deficiency at the baseline.Method: We retrospectively collected data ...

Background: Noonan syndrome is autosomal dominantly inherited disease with an incidence of 1:1000 to 1:2500 newborns. It is caused by different gene mutations involved in the RAS/MAP kinase signaling pathway in the cells. Phenotype including expression of dysmorphic features and visceral organ affection is variable. Different gene mutations are found in approximately 60–70% of tested patients.Objective and hypotheses: To report mutational analysis i...

Objective and hypotheses: We analysed the prevalence of transient hypothyroidism in a cohort of children affected by CH with eutopic thyroid after Levothyroxine discontinuation.Method: 77 newborns (36 females, 41 males) affected by CH with eutopic thyroid from 1999 to 2011 were enrolled. The confirmation diagnosis of CH after screening was made within the first 15 days of life by assessing TSH value (mean 74.4±82.2 μU/ml n.v 0.5–4.2) and f...

Background: Distal monosomy 10q is a rare chromosomal anomaly characterized by unusually slow growth before and after birth, mild to severe intellectual disability and distinctive craniofacial features (hypertelorism, strabismus, a prominent or broad nasal bridge, and posteriorly rotated low-set ears). Some other anomalies have been described in various systems. The behavioral profile was characterized by marked inattention, hyperactivity and impulsivity. In recent years, subt...

Background: Objective and hypotheses: Rate the frequency and structure of post-operative complications of thyroidectomy in children with nodular goiter.Method: Twenty-seven children, 20 girls (14.5±3.64 years) and seven boys (14.68±4.09 years), which were performed thyroidectomy about multinodular goiter (n=23) and single-node goiter (n=4) from 2003 to 2015. Were evaluated complaints of patients, physica...

Background: Evaluation of glucose metabolism is currently based on 2 h glucose during an oral glucose tolerance test (oGTT) or fasting glucose and insulin or A1c, as these are the only parameters where cutoff values exist. This does, however, not adequately reflect the degree of hyperinsulinemia due to insulin resistance in obese children.Objective and design: From frequent glucose and insulin levels during an oGTT of 64 healthy lean children (aged 7.7&#...

Background: Fetuin A is a hepatokine known as a natural inhibitor of the insulin receptor tyrosine kinase and is associated with insulin resistance and nonalcoholic fatty liver disease (NAFLD). Studies on adults provided conflicting results regarding the link between fetuin A and the severity of liver damage in NAFLD. Data on children are limited.Objective: To investigate the relationship between fetuin A, metabolic parameters, and NAFLD in obese childre...

Background: HbA1c was recommended as diagnostic tool in adults at risk for diabetes. In obese patients, HbA1c shows an association even with other features of metabolic syndrome. However, its value in pediatric population for this purpose has yet to be established.Material and methods: We determined HbA1c (IFCC method) in 307 overweight/obese children and adolescents (age 11.4±3.2; range 3.0–17.9 and BMI 27.9±4.7; range 20.4–47.6) val...

Background: Recent studies have suggested a role of IGF1 as a candidate prognostic marker for cardiometabolic complications of obesity.Objective: To investigate the relationship between IGF1 serum levels and both biochemical and metabolic parameters as well as body composition in a cohort of obese children.Methods: obese subjects (130F/157M), aged 11.2±2.7 years, were studied. Anthropometry, biochemical and metabolic parameter...