hrp0086p2-p759 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Case of Central Precocious Puberty in a Patient with Prader-Willi Syndrome

Pellegrin Maria Chiara , Tornese Gianluca , Faleschini Elena , Ventura Alessandro

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...

hrp0084p3-1020 | Growth | ESPE2015

GH Deficiency and Glucose 1 Transporter Deficiency Syndrome

Patti Giuseppa , Tornese Gianluca , Costa Paola , Faleschini Elena , Ventura Alessandro

Background: GLUT1 deficiency syndrome (GLUT1DS) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. Clinical features comprise motor and mental developmental delay, seizures with infantile onset, deceleration of head growth often resulting in acquired microcephaly, and a movement disorder with ataxia, dystonia, and spasticity. While it is known that ketogenic diet may cause growth retardation, GH deficiency (GHD) may represent anot...

hrp0086p1-p824 | Syndromes: Mechanisms and Management P1 | ESPE2016

Growth Hormone Deficiency in Noonan Syndrome: Does it Influence Clinical Response to GH Therapy?

Pellegrin Maria Chiara , Tornese Gianluca , Faleschini Elena , Masera Nicoletta , Pozzobon Gabriella , Selicorni Angelo , Ventura Alessandro

Background: Short stature is a main feature of Noonan syndrome (NS). Although rhGH is commonly used in NS patients, it is not known whether a defect in the secretion of GH influences the response to rhGH therapy.Objective and hypotheses: The aim of this study was to evaluate the efficacy and safety of rhGH treatment in NS patients, according to the presence of GH deficiency at the baseline.Method: We retrospectively collected data ...

hrp0082p2-d3-392 | Fat Metabolism & Obesity (2) | ESPE2014

HbA1c and Metabolic Parameters in a Pediatric Overweight/Obese Population

Pellegrin Maria Chiara , Grillo Andrea , Faleschini Elena , Tornese Gianluca , Ventura Alessandro

Background: HbA1c was recommended as diagnostic tool in adults at risk for diabetes. In obese patients, HbA1c shows an association even with other features of metabolic syndrome. However, its value in pediatric population for this purpose has yet to be established.Material and methods: We determined HbA1c (IFCC method) in 307 overweight/obese children and adolescents (age 11.4±3.2; range 3.0–17.9 and BMI 27.9±4.7; range 20.4–47.6) val...

hrp0082p2-d3-498 | Endocrine Oncology | ESPE2014

A Rare Brain Tumor in Noonan Syndrome: Report of Two Cases

Pellegrin Maria Chiara , Tornese Gianluca , Cattaruzzi Elisabetta , Blank Eva , Kieslich Matthias , Ventura Alessandro

Background: Noonan syndrome (NS) is a congenital polymalformative disorder caused by aberrant up-regulated signalling through RAS GTPase. Although NS is associated with hematologic malignancies, no predisposition for neuronal tumors was reported so far.Objective and hypotheses: We describe two cases of young patients with NS and dysembryoplastic neuroepithelial tumor (DNET). This is the first case series reporting a rare type of intracranial tumor in NS....

hrp0084p2-357 | Fat | ESPE2015

TG:HDL Ratio as Best Predictor for IGT Screening in Overweight Children

Pellegrin Maria Chiara , Radillo Lucia , Grillo Andrea , Tornese Gianluca , Faleschini Elena , Ventura Alessandro

Background: The prevalence of dysglycaemia is high among overweight children and adolescents. Current screening criteria with fasting laboratory values have low sensitivity to detect IGT. Fasting triglycerides (TG) >1.17 mmol/l has been proposed as a criterion for screening obese children and adolescents at risk for IGT.Aims and objectives: We aimed to compare the performance of different screening criteria for detecting IGT in obese and overweight c...

hrp0084p2-254 | Diabetes | ESPE2015

Can We Rely on Finger Stick Haemoglobin A1c? Comparison of Levels Assayed by DCA 2000 with IFCC Reference Method in a Paediatric Cohort

Tornese Gianluca , Milic Nadia , Spetti Laura , Gembrini Daniela , Loganes Carmen , Pellegrin Maria Chiara , Radillo Lucia , Radillo Oriano , Faleschini Elena , Ventura Alessandro

Background: DCA 2000 is still a very popular device to determine HbA1c levels in diabetes practices through a finger stick. It allows clinicians to give immediate feedback to patients and to make changes in diabetes management during the three-monthly assessment.Objective and hypotheses: To compare HbA1c values measured with DCA 2000 with corresponding values measured with IFCC (considered as the reference method) in a single paediatric centre, to assess...