ESPE Abstracts

Background: Adolescence is a critical period of life, and even more if a chronic illness is present like type 1 diabetes mellitus (T1DM). The healthy lifestyle practice is one of the pillars of the T1DM treatment.Objective and hypotheses: To evaluate the association between lifestyle and health related quality of life (HRQoL) in adolescents with T1DM.Method: Lifestyle and HRQoL were evaluated in 69 T1DM adolescents (34 male, mean a...

Background: Prader–Willi syndrome (PWS) has a relative hypoinsulinemia and a lower insulin resistance than non-PWS subjects. Mostly on the basis of such higher insulin sensitivity, PWS subjects have been hypothesized to be at lower risk of non-alcoholic fatty liver disease (NAFLD).Objective and hypotheses: In this cross-sectional study, we analyzed the presence and the severity of NAFLD in a group of PWS children compared to matched pairs.<p cla...

Background: Epidemiologic studies have shown strong associations between high carotenoids levels and reduced risk of developing various forms of cancer, cardiovascular system diseases, etc.Objective and hypotheses: Carotenoids are hydrophobic substances and are contained in blood in lipoprotein particles. Their conformation depends on their molecular environment. By evaluating the conformation of carotenoids we can obtain various information about the li...

Background: The most common form of congenital adrenal hyperplasia (CAH) is 21-hydroxylase deficiency, which in its severe form can cause genital ambiguity in females. This can be ameliorated by administering dexamethasone to the mother.Case: This is a family whose index case is a first son diagnosed by Madrid Newborn Screening Program of CAH with salt-wasting form due to 21-hydroxylase deficiency. Mutation analysis revealed: ‘hybrid deletion’ ...

Background: Triglyceride (TG)/HDL ratio has recently been considered a index of cardio-metabolic risk in healthy and obese subjects. Diet, lifestyle indexes, anthropometric parameters, and metabolic control are the variables with possible influence on belonging to a certain cardio-metabolic risk group.Objective and hypotheses: To identify whether HbA1c per se has an influence on TG/HDL and to study other possible variables influencing the ratio....

Background: The effects of recombinant GH therapy on development of oxidative stress and insulin resistance in girls with Turner syndrome (TS) were observed.Objective and hypotheses: The aim of this study is to examine the longitudinal relationships of oxidative stress markers with the development of insulin resistance during GH treatment in girls with TS.Method: Ten prepubertal girls (aged 12–14 years; median 13.0 years) with...

Background: TV-1106 (Teva Pharmaceuticals) is a genetically fused human GH and human serum albumin, in development for treatment of GH deficiency (GHD). TV-1106 has an extended duration of action compared to daily GH treatment and thus it is believed that treatment with TV-1106 can reduce the frequency of injections and improve compliance and quality of life for those requiring growth hormone replacement therapy. The efficacy and safety data from adult studies with TV-1106 sup...

Background: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case present...

Background: Low birth weight is associated with cardiometabolic risk in adulthood. To date, there is no evidence of a relationship between birth length and metabolic risk.Objective and hypotheses: To evaluate the relationship between birth size and risk of metabolic syndrome (MetS) in obese children.Method: 41 obese children were studied (23 females/18 males, 13.2±1.26 years). All patients underwent anthropometric, biochemical...

Background: Congenital hypothyroidism (CH) is a heterogeneous disorder. While the great majority of cases are considered sporadic, the use of next generation sequencing (NGS) may bring significant advances in elucidating the underlying molecular mechanisms.Case presentation: We selected a family with three children affected by CH with gland in situ and diagnosed at neonatal screening: the index patient, his sister and his brother. Data at diagno...