ESPE Abstracts

Background: Leprechaunism, also known as Donohue syndrome, is due to a severe congenital insulin-resistance, with prenatal and neonatal growth retardation, typical dysmorphic features, glycaemic dysregulation with hyperinsulinism and hyperandrogenism.Objective and hypotheses: These patients have a poor prognosis with death in the first year of life.Method: We report the case of a newborn (35.4 weeks) with severe fetal growth restri...

Delayed puberty (DP) is defined as a retardation of sexual maturation beyond the expected age, which conventionally is between 8 and 13 years in females. Since DP due to hypogonadism requires a specific treatment, it is crucial to promptly define the underlying pathogenesis and identify a tailored program of care. Hormonal therapy is essential to promote the development of secondary sexual characteristics, bone, muscle, and social, sexual, and psychologic skills. Despite the o...

Background: Preterm infants born VLBW can display auxological impairment and long term cognitive disabilities. These outcomes are influenced by the condition of being small for gestational age (SGA), but also by the extra-uterine growth restriction (EUGR). Aim of the study was to detect the influence of gestational age(GA), perinatal growth trend and enteral nutrition during the hospitalization on cognitive and auxological outcomes at peri-pubertal age (PPA).<...

Background: The association between primary hypoparathyroidism and celiac disease (CD) is uncommon in paediatrics, even more if they are not part of an autoimmune polyglandular syndrome (APS, almost exclusively type II). We describe a case of autoimmune hypoparathyroidism coexisting with celiac malabsorption.Objective and hypotheses: Valentina was a 7 year old female child when she was admitted in hospital because she had generalized seizures at home. Sh...

Background: Perinatal factors seem to influence the onset of puberty. There is some evidence suggesting that being born small for gestational age (SGA) is associated with early puberty, whereas the effect of large size at birth on timing of puberty is not clear.Objective and hypotheses: To evaluate the timing of puberty in children born SGA and large for gestational age (LGA) compared to children born appropriate for gestational age (AGA).<p class="a...

Background: Cyclic treatment with bisphosphonates (BP) is now considered a ‘standard care’ for children with osteogenesis imperfecta (OI). Vitamin D is a necessary nutrient for bone health for all children but especially for those with OI. In the literature few studies have considered the relationship between bone mineral density, vitamin D and pubertal stage in children treated with BP for OI.Objective and hypotheses: The purpose of this study...

Background: Infants born small (SGA) and large (LGA) for gestational age have been identified at increased risk of perinatal morbidity and later cardio-metabolic alterations. Nevertheless, the progression over time in incidence of SGA and LGA births is yet to be determined.Objective and hypotheses: To investigate temporal trends in SGA and LGA infants compared to those born appropriate (AGA), and to identify factors potentially associated over a 20-year ...

Background: Obese adults with normal glucose tolerance (NGT) but 1-h post load glucose (1 hPG)≧155 mg/dl have an increased cardiometabolic risk. In children, preliminary data suggest that 1hPG≧132.5 mg/dl might identify those at higher risk of type 2 diabetes.Objective and hypotheses: To assess whether NGT obese youth with 1hPG ≧132.5 mg/dl (High-NGT) have worse insulin sensitivity and secretion compared to obese youth with 1hPG &#60...

Background: Early predictors of cardiovascular risk using anthropometric and laboratory variables available in the general practice in obese children are poorly identified.Objective and hypotheses: To identify best predictors of early cardiovascular risk in obese children between anthropometric and laboratory parameters.Method: Cardiovascular risk was determined by measuring intima-media thickness of the right common carotid artery...

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...