hrp0092p3-17 | Adrenals and HPA Axis | ESPE2019

Newborn Screening for Congenital Adrenal Hyperplasia: Should we Worry more about False Positives or False Negatives?

Ciccone Sara , Pedicelli Stefania , Ventresca Silvia , Desideri Elena , Stella Marcello

Background: Newborn screening for congenital adrenal hyperplasia (CAH) is based on the determination of 17-hydroxyprogesterone (17OHP) on blood and its need is confirmed by the most recent guidelines on the subject. In Italy this screening is not mandatory, and its application is on a regional basis. Among its disadvantages, it is well known the high frequency of false-positives, in particular in premature babies and those born small for gestational age. Howev...

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...

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=...

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...

hrp0086rfc2.1 | Bone &amp; Mineral Metabolism | ESPE2016

25-OH-Vitamin D Status in a Pediatric Population of Subjects Affected By Prader-Willi Syndrome Compared to Matched Obese Controls

Fintini Danilo , Pedicelli Stefania , Bocchini Sarah , Bizzarri Carla , Grugni Graziano , Cappa Marco , Crino Antonino

Background: Obesity is usually correlated with a higher prevalence of 25OH vitamin D (25OHD) deficiency. This might be due to either volumetric dilution of vitamin D in the large fat mass or its increased uptake by adipose tissue. To our knowledge, a systematic study on 25OHD levels in Prader-Willi syndrome (PWS), a genetic disorder associated with severe obesity, is not available.Objective and hypotheses: To analyze the 25OHD values in a population of p...

hrp0086rfc12.7 | Neuroendocrinology | ESPE2016

Prevalence of Organic Lesions in Males with Central Precocious Puberty

Pedicelli Stefania , De Matteis Sara , Scire Giuseppe , Cappa Marco , Cianfarani Stefano

Background: Organic lesions in males with central precocious puberty (CPP) have been reported in 40% of cases. This high prevalence decreases (20–29%) when patients with previously diagnosed alterations of central nervous system (CNS) are excluded. Reported predictors of organic lesions are age at puberty onset, bone age, BMI, LH peak response and testosterone levels.Objective and hypotheses: To determine the prevalence and type of intracranial lesi...

hrp0082p2-d3-501 | Perinatal and Neonatal Endocrinology | ESPE2014

Kabuki 47,XXY Syndrome: a Case Report

Pedicelli Stefania , Marini Romana , Ciccone Sara , Cambiaso Paola , Digilio Maria Cristina , Bizzarri Carla , Cappa Marco

Background: Klinefelter syndrome is the most common sex chromosome disorder (prevalence: 1/600 newborn males), characterized by at least one extra X chromosome. If the diagnosis is not made prenatally, the disorder can remain unknown until pubertal or adult age. Kabuki syndrome, instead, is a rare, dysmorphic syndrome (1:32 000 newborn) characterized by distinctive facial features, multiple anomalies, and mental retardation. About 50–80% of cases are due to de novo</e...

hrp0082p2-d2-521 | Pituitary (1) | ESPE2014

Association of Pituicytoma and Cushing’s Disease: a Rare Pediatric Case

Ciccone Sara , Cambiaso Paola , Longo Daniela , Marini Romana , Pedicelli Stefania , Deodati Annalisa , Galassi Stefania , Cappa Marco

Background: Pituicytoma is a very low-grade glioma that originate in the neurohypophisis and infundibulum.Objective and hypotheses: Describe diagnosis and treatment of associated pituicytoma and ACTH-secreting adenoma in a 6-year-old girl.Method: Case report and literature review.Results: We report the case of a 6-year-old presented with growth failure and associated weight gain, premature pubarche, and hyper...