ESPE Abstracts

Introduction: We report a series of three siblings, two girls and one boy, diagnosed with Central Precocious Puberty (CPP) respectively at the age of 5.66, 6.67 and 8.5 years, carrying a mutation in the gene encoding the makorin RING finger protein 3 (MKRN3), usually responsible for the development of familial CPP.Methods: We diagnosed CPP in all the patients by performing a GnRH test. We also dosed basal levels of LH, F...

Background: There are two liquid formulations of Levothyroxine currently in use in Italy: one containing ethanol (Tirosint®) and the other ethanol-free (Tifactor®). The aim of our study is to compare the two liquid formulations of Levothyroxine in the first six months of treatment in newborns affected by Congenital Hypothyroidism (CH).Methods: We retrospectively enrolled 156 patients treated with the ethanol-cont...

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...

Objective: Allostatic load (AL) refers to the physiological response that occurs in chronic stress burden, Excessive weight gain is an important source of physiological stress promoting chronic low-inflammation state detrimental for health. We estimated AL score among a pediatric population, in order to define a correlation between cumulative biological dysregulation and excess weight.Methods: We enrolled 164 children an...

Background: we depicted gender-differences in metabolic syndrome (MS) clustering before and after puberty in pediatrics, to identify early childhood prevention intervention and treatments.Methods: We considered 1079 children and adolescents. According to body mass index (BMI) percentiles the subjects were classified as normal weight BMI<75th, overweight BMI 75-95th and with obesity BMI>95th....

Background: The periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, is an autoinflammatory disease characterised by regularly recurrent fever episodes, due to seemingly unprovoked inflammation.Objective and hypotheses: The aim of the study was to assess serum 25-hydroxy cholecalciferol (25(OH)D) concentrations in children with PFAPA and to evaluate longitudinally the effect of wintertime supplementation on 25(OH)D st...

Background: GH has a strong positive influence on bone stimulating both bone elongation and increase in size by enhancing the accrual of trabecular and cortical bone up to the attainment of peak bone mass in young adult.Aim of the study: We compared the effect of two different GH dosages on statural growth and bone geometry in two groups of GH-deficient children at final height. Data has been collected retrospectively from 1994 to 2013.<p class="abst...

Background: Polyuria and polydipsia must never be underestimated.Objective and hypotheses: A 7-year-old girl presented with polyuria, polydipsia and nocturia of 1 year duration, during which she underwent outpatient follow up with her general practitioner and urologist. No weight loss or other endocrine signs.Method: Polyuria was confirmed by water balance (120 ml/kg per 24 h), urinary osmolality (222 mmol/kg), plasma osmolality (2...

Background: Neonatal screening strategies revealed an increase in hypothyroidism associated with an in-situ thyroid gland due to TSH receptor (TSHR) mutations. While there are many genetic and functional studies regarding TSHR mutations, few are found concerning the clinical course and long-term outcome of TSH resistance involving the pediatric population.Objective and hypotheses: To determine the impact of TSHR mutations on clinical course, biochemical ...

Background: Xhantogranuloma of the sellar region (XG) is a very rare brain tumor and is clinically and pathologically distinct from classical adamantinomatous craniopharyngioma, but the differential diagnosis is difficult because there are no typical neuroradiological signes. The characteristic and the outcome of XG in children remain still unclear.Objective and hypotheses: We aimed to describe a case report of XG and multiple pituitary hormone deficienc...