ESPE Abstracts

Background: Impaired linear growth and low IGF1 levels, strictly related to poor glycemic control have been reported in children with type 1 diabetes (T1DM).Objective and hypotheses: We studied growth and growth factors in 91 T1DM young patients, 54 males (age: 11.73±3 years, disease duration: 5.2±2.9 years). All subjects were on intensive insulin therapy: 72 children by multiple injection therapy (MI), 19 children by continuous subcutaneous in...

Case report: A 10-year-old Italian girl presented with a painless, hard swelling in left fronto-orbital region noted two years earlier. She had no headache or other symptoms; ophthalmologic evaluation revealed no signs of intracranial hypertension; the visual field showed a reduced level of sensitivity in the upper sector of the left eye.Her previous medical history was not relevant except for a mild head injury reported two years earlier. The girl was a secon...

Craniopharyngioma is a rare, embryonic malformation of the sellar/parasellar region with low histological grade. In childhood-onset craniopharyngioma (CoCR), endocrine dysfunctions, severe obesity and metabolic syndrome (MetS), neurological impairment and reduced quality of life have been described as consequences of both localization and treatment. To characterize a population with CoCR and to correlate endocrine/metabolic sequelae with different surgery approach we performed...

Background: Increasing incidence of pediatric obesity has been observed worldwide. Metabolic syndrome, characterized by visceral obesity, dyslipidemia, hypertension and impaired glucose metabolism, is associated with obesity.Objective and hypotheses: To evaluate early ocular signs of hypertension by retinography in a cohort of overweight (BMI>85th)/obese (BMI>95th) children, in order to define the prevalence of retinal alterations and characteriz...

Background: The use of international or local growth charts for the definition of pediatric obesity is still debated. Inappropriate reference standards may lead to under/over-estimation of the prevalence and consequently of the number of patients to be included in diagnostic work-up.Objective and hypotheses: To define the differences between patients considered obese according to either CDC or Italian growth charts.Method: A single...

Background: Recently congenital hypothyroidism (CH) is increased,particularly mild forms. Current guidelines recommend initial levothyroxine (LT4) dose of 10–15 mcg/kg per day as soon as possible, if diagnosis is confirmed by serum test, even if FT4 concentration is normal and venous TSH concentration is >20 microUI/ml.Objective and hypotheses: The aim of our study was to evaluate the initial LT4 dose in newborn with congenital hypothyroidism, n...

Background: Congenital proopiomelanocortin deficiency (POMC) gene mutations cause early-onset obesity, hyperphagia and ACTH deficiency. In the subjects with this picture, neuropsychiatric (NP) features were rarely reported. Many Authors described an appetite loss during the topiramate treatment.Objective and hypotheses: To discuss NP features observed in a POMC deficient patient and to propose a therapeutic attempt to reduce the hyperphagia.<p class=...

Background: Genes in the HLA region confer about 50% of the genetic risk of type 1 diabetes (T1DM). More than 40 different genes give a minor contribution to T1DM risk, some of them are related to the immune function.Case presentation: A girl was referred at the age of 9 months with severe ketoacidosis in T1DM at onset. Anti-insulin autoantibodies were positive. She was the only daughter of unrelated Caucasian parents, born at term by vaginal delivery. T...

Background: Hypothyroidism is a common problem during childhood generally due to autoimmune thyroid disease. It can also occur in case of severe loss of serum proteins, as well as in the case presented. The most accepted practice in the treatment of hypothyroidism consists in the oral administration of LT4. Many conditions may affect the absorption of LT4.Case presentation: We report an original case of LT4 malabsorption ...

Background: Klinefelter syndrome (KS) is a genetic disorder consisting in a variable number of additional X chromosomes in a male individual. KS patients can rarely develop peripheral precocious puberty (PPP) caused by extragonadal germ cell cancers (eGCCs) producing hormones with androgenic activity. KS patients are at higher risk for eGCC when compared to the healthy populationCase report: We report the case of M., a 8...