ESPE Abstracts

Background: Currently, the diagnosis of GH deficiency (GHD) in infants and young children is based on the assessment of GH serum levels either during hypoglycaemia or after pharmacological stimulation tests. However, GH cut-off values have not been standardized and provocative tests may be unsafe in this age range.Objective and hypotheses: Brain MRI may replace GH measurements in diagnosing GHD in infancy and young childhood.Method...

Background: Polybrominated diphenyl ethers (PBDEs) are widely used as flame retardants and have shown endocrine disruption properties in experimental studies. Preliminary studies in animal models have suggested a link between exposure to PBDE and alterations of puberty and reproduction.Objective and hypotheses: To investigate the association between the exposure to PBDEs and alterations of puberty in girls, referred for idiopathic premature thelarche (IP...

Background: The incidence of non-alcoholic fatty liver disease (NAFLD) is dramatically increasing among children worldwide. The gold standard for diagnosis is the liver biopsy. Reliable serum markers are lacking. Recently, circulating miRNAs have been studied as biomarkers of disease progression. Specifically, miR-122 was proposed as predictive marker for liver disease in adults, while no data are available for children.Objective and hypotheses: To inves...

Background: Osteocalcin plays a role in glucose metabolism in mice, but its relevance in human energetic metabolism is controversial. Few data are available on osteocalcin in pediatric patients with T1DM. The aim of our monocenter observational study was to evaluate the role of the main remodelling bone biomarkers in the regulation of glucose metabolism at the time of type 1 diabetes diagnosis and to evaluate their potential relationship with insulin sensitivi...

Background: Transient neonatal diabetes (TNDM) is commonly caused by a methylation loss in the 6q24 region, either in isolation or as multiple-loci demethylation due to ZFP57 gene mutation. TNDM is biphasic; usually resolves after 2–3 months but often recurs between age 4 and late adolescence.Case: The boy was born at 38 weeks of gestation (birth weight 3340 g, healthy consanguineous Turkish parents, unremarkable pregnancy). He presented at...

Background: Antipituitary (APA) and antihypothalamus antibodies (AHA) have not been investigated in children and adolescents with brain tumors.Patients and Methods: Sixty-three patients with craniopharyngioma, glioma and germinoma treated with surgery and/or chemotherapy and/or radiotherapy were evaluated at a median age of 13 years. Forty-one had MPHD, 6 had a single defect being GH the most common (65.1%), followed...

Background: The primary goal of GH treatment in GHD children and adolescents is to normalize height, in order to attain an adult height within the target height (TH) range.Aim: to investigate height improvement in GHD paediatric patients treated with GH in our Country.Subjects: 737 patients with isolated GHD (39.5% females) from 13 tertiary Centres for Paediatric Endocrine Care...

Diagnosis of craniopharyngiomas in childhood is often delayed due to nonspecific symptoms. In Italy all children are followed-up by paediatricians of the NHS and paediatric endocrinologists are present throughout the country. This would theoretically lead to an early diagnosis. We aimed to examine the clinical picture at diagnosis and duration of history before diagnosis in 117 patients (pts) followed-up at Endocrinology Centres belonging to the I.S.P.E.D..<p class="abstex...

Background: There is still need to define permanent GHD after adult height achievement in young adults with childhood-onset GHD (COGHD).Objective and hypothesis: To reassess GH response during transition.Method: We present the final data of 129 subjects (71M) recruited from a multicenter cross-sectional observational study, in whom anthropometrics, ITT (n=99), GHRH–arginine (n=122), IGF-1 evaluations were und...

Background: Type 1 diabetes (T1D) is the most frequent etiology in Italian diabetic children and adolescents. Data on type 2 (T2D) and monogenic diabetes (MD) prevalence are scanty.Objective and hypotheses: To estimate the prevalence of T1D, T2D, secondary diabetes, and MD in a pediatric population of Italian diabetic patients.Method: Data on 3,076 patients (diabetes onset January 2007–December 2012, age at diagnosis <18 y...