hrp0082p3-d2-742 | Diabetes (3) | ESPE2014

‘Learning by Doing Approach’: Use of Multimedia Applications in Type 1 Diabetic Children

Ortolani Federica , Vendemiale Marcella , Tummolo Albina , Di Bitonto Pierpaolo , Rossano Veronica , Roselli Teresa , Piccinno Elvira

Background: Virtual environments have proved to be successful for educational purposes in different fields. Multimedia applications might be used to consolidate and internalize informations and behavioral strategies in type 1 diabetic children.Aim: In the last years our Diabetology Division and the Department of Informatics co-created many multimedia applications (edutainments, virtual environments, role serious games, electronic diary smartphone apps, a...

hrp0082p3-d3-647 | Autoimmune Endocrine Disease | ESPE2014

Autoimmune Disease and Arnold Chiari Syndrome: Any Correlation?

Ortolani Federica , Tummolo Albina , Fedele Stefania , Masciopinto Maristella , Pesce Sabino , Papadia Francesco , Cornacchia Domenica , Labbate Arianna , Vendemiale Marcella , Piccinno Elvira

Introduction: Type 1 Arnold Chiari syndrome (extension of cerebellar tonsils into the foramen magnum without involving the brain stem) causes ataxia, dysphagia, headache, breathing problems… So far, an association between Arnold Chiari and autoimmune diseases has not yet been described in literature.Case 1 description: M.V., on term third born, spontaneous delivery, non complicated pregnancy, normal physical and psychological development stages. He...

hrp0082p3-d3-757 | Diabetes (4) | ESPE2014

Pneumothorax, Pneumomediastinum, and Subcutaneous Emphysema: Complications of Severe DKA in T2DM Obese Patient

Ortolani Federica , Tummolo Albina , Torelli Cataldo , Masciopinto Maristella , Fedele Stefania , Nicastro Francesco , Papadia Francesco , Vendemiale Marcella , Piccinno Elvira

Case presentation: G. 15 years 8 months; H 180 cm; P 149.6 kg, BMI 46 kg/m2, second born, father obese, healthy mother and two brothers, no familiarity for T1DM/T2DM, no gestational diabetes. Bronchial asthma, since 2-year-old important weight increase. Flue, polyuria, polydipsia, 12 kg loss in 15 days, anorexia since 5 days, vomit. Hospitalized for tachycardia, dyspnea, and asthenia. On arrival: serious dehydration, Kussmaul breathing, neck subcutaneous emphysema, ...

hrp0082p3-d3-756 | Diabetes (4) | ESPE2014

Haemolysis and Acute Pancreatitis During Diabetic Ketoacidosis Treatment in a 14-Year-Old Boy with Unknown Glucose-6-Phosphate Dehydrogenase Deficiency

Ortolani Federica , Tummolo Albina , Torelli Cataldo , Masciopinto Maristella , Fedele Stefania , Lanzillotto Maria Paola , Nicastro Francesco , Papadia Francesco , Vendemiale Marcella , Piccinno Elvira

Background: G6PD deficiency is conventionally affiliated with drug induced oxidative stress, but an association with diabetes mellitus is seldom reported. Hypertriglyceridemia from insulin deficiency can be the cause of severe pancreatitis complicating DKA in children.Case report: A 14-year-old Bulgarian boy, no significant past medical history, hospitalized in Pediatric Surgery Department for abdominal pain, hematemesis insorted during a cruise trip. Re...

hrp0089p1-p206 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

MKRN3 Levels in Girls with Central Precocious Puberty During GnRHa Treatment: A Longitudinal Study

Grandone Anna , Cirillo Grazia , Sasso Marcella , Luongo Caterina , Tornese Gianluca , Festa Adalgisa , Giudice Emanuele Miraglia Del

Background: Recently, mutations of makorin RING-finger protein 3 (MKRN3) have been identified in familial central precocious puberty (CPP). Serum levels of this protein decline before the pubertal onset in healthy girls and boys and are lower in patients with CPP compared to prepubertal matched pairs. The aim of the study is to investigate longitudinal changes in MKRN3 circulating levels in patients with CPP before and during GnRHa treatment.Me...

hrp0086rfc12.4 | Neuroendocrinology | ESPE2016

Molecular Screening of MKRN3, DLK1 and KCNK9 Genes in Central Precocious Puberty

Grandone Anna , Sasso Marcella , Cirillo Grazia , Luongo Caterina , Mariani Michela , del Giudice Emanuele MIraglia , Perrone Laura

Background: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene has been found mutated for the first time in 5 families with familial precocious puberty. The inheritance pattern is particular being the MKRN3 a maternal imprinted gene. Moreover in a recent genome wide association study common intronic or intragenic variants harbouring this gene and other two imprinted genes, D...

hrp0086p1-p605 | Growth P1 | ESPE2016

A New Case of Intragenic Deletion in IGF1R with Very Mild Phenotype

Coppola Ruggero , Luongo Caterina , Nacca Raffaella , Sasso Marcella , Grandone Anna , del Giudice Emanuele Miraglia , Perrone Laura

Background: IGF1R mutations are characterized by IGF-1 resistance causing impaired fetal and postnatal growth. Several reports in children with heterozygous defects of IGF1R have demonstrated a variable phenotype, which can be associated to microcephaly, dismorphic features and mild developmental delay.Case presentation: We report of an 8-years-old boy, who came at our observation with short stature (−3.2 SDS) and mild microcephal...

hrp0092fc4.4 | Fat Metabolism and Obesity Session | ESPE2019

The rs72613567:TA Variant in the Hydroxysteroid 17-beta Dehydrogenase 13 Gene Reduces Liver Damage in Obese Children

Sessa Anna Di , Rosaria Giuseppina , Cirillo Grazia , Marzuillo Pierluigi , Arienzo Maria Rosaria , Pedulla' Marcella , Miraglia Del Giudice Emanuele

Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition.<p...

hrp0089p2-p203 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

First Three Years of The Congenital Adrenal Hyperplasia Neonatal Screening Program of the State of Parana, Southern Brazil

Kraemer Gabriela , Nesi-Franca Suzana , Lacerda Luiz De , Lima Marcella , Carvalho Julienne , Domingos Mouseline , Furtado Ivy , Pereira Rosana

Introduction: The diagnosis of Congenital Adrenal Hyperplasia (CAH) is a challenge due to the complexity of its pathophysiology and the variety of clinical manifestations. Female newborns (NB) with classical forms present virilization of the external genitalia while in boys it is usually normal. Salt-losers boys and girls are highly susceptible to develop acute adrenal insufficiency and death in the first weeks of life; for these reasons, Neonatal Screening (NS) programs have ...

hrp0086p1-p810 | Syndromes: Mechanisms and Management P1 | ESPE2016

Phenotypic Variability in a Family with a New SHOX Gene Mutation

Festa Adalgisa , Grandone Anna , Luongo Caterina , Sasso Marcella , Mariani Michela , Del Giudice Emanuele Miraglia , Minari Roberta , Vottero Alessandra , Perrone Laura

Background: The phenotype of SHOX aploinsufficiency is highly variable also in affected members of the same family with broad differences in severity of short stature, disproportion, presence of Madelung deformity.Case presentation: We present a family with a new mutation of SHOX gene. A 2.3 years old girl, born at term from unrelated parents, came to our observation for short stature. Her height was −2.02 SDS, arm span was normal, sitting heigh/he...