hrp0092p2-225 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Unusual Presentation of McCune-Albright Syndrome in a 10-Year-Old Girl

Ciccone Sara , Bizzarri Carla , Cristina Matteoli Maria , Cappa Marco

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...

hrp0089p2-p324 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Endocrine-Metabolic Characterization of Pediatric Patients with Craniopharyngioma: A Single-centre Cohort study

Pedicelli Stefania , Sette Giulia , Cianfarani Stefano , Cappa Marco

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...

hrp0086rfc4.7 | Pathophysiology of Obesity | ESPE2016

Prevalence and Characterization of Retinal Alterations in a Cohort of Overweight and Obese Children

Pedicelli Stefania , Bizzarri Carla , Romanzo Antonino , Cianfarani Stefano , Cappa Marco

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...

hrp0086p2-p494 | Fat Metabolism and Obesity P2 | ESPE2016

Comparison between CDC (Centers for Disease Control and Prevention) and Italian Growth Charts in the Characterization of Pediatric Obesity

Pedicelli Stefania , Bizzarri Carla , Morino Giuseppe Stefano , Cappa Marco

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...

hrp0086p2-p937 | Thyroid P2 | ESPE2016

Starting Treatment in Congenital Hypothyroidism with Normal FT4 Levels and Thyroid Gland in situ Detected at Neonatal Screening

Paone Laura , Gubinelli Jessica , Scire Giuseppe , Ubertini Graziamaria , Cappa Marco

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...

hrp0084p1-72 | Fat | ESPE2015

Use of Topiramate in Severe Hyperphagia Associated to Neuropsychiatric Features in a Boy with Congenital Proopiomelanocortin Deficiency

Marini Romana , Ciccone Sara , Alfieri Paolo , Pedicelli Stefania , Cappa Marco

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=...

hrp0084p3-629 | Autoimmune | ESPE2015

Early-onset Type 1 Diabetes and Multiorgan Autoimmunity in a Girl with Partial Monosomy 2q and Trisomy 10p

Bizzarri Carla , Matteoli Maria Cristina , Patera Ippolita Patrizia , Cappa Marco

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...

hrp0084p3-1232 | Thyroid | ESPE2015

Malabsorption of Levothyroxine in a Child Affected by Short Bowel Syndrome

Paone Laura , Marini Romana , Diamanti Antonella , Cappa Marco

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 ...

hrp0082p3-d2-737 | Diabetes (3) | ESPE2014

IGF1 Levels in Children with Type 1 Diabetes are Primarily Related to Glycemic Control and Residual β Cell Mass, and not Affected by Different Modalities of Insulin Therapy

Bizzarri Carla , Benevento Danila , Patera Ippolita Patrizia , Marini Romana , Bongiovanni Marzia , Anziano Marco , Cappa Marco

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...

hrp0092p1-386 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Prevalence of Copy Number Variations (CNVs) in a Cohort of SGA Children with Persistent short Stature Associated with Additional Clinical Features.

Inzaghi Elena , Deodati Annalisa , Bizzarri Carla , Ubertini GraziaMaria , Pedicelli Stefania , Cappa Marco , Cianfarani Stefano

Background: Multiple factors may affect intrauterine growth leading to birth of children small for gestational age (SGA). The impact of subtle genetic alterations on both pre and post-natal growth is still largely unknown.Objective and Hypotheses: The aim of this study was to investigate the prevalence of CNVs in a cohort of SGA children with persistent short stature.Subjects and Methods</s...