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...

hrp0082p2-d2-579 | Sex Development (1) | ESPE2014

Mosaicism: Study of Nine Patients

Mazzanti Laura , Baronio Federico , Ortolano Rita , Scarano Emanuela , Tamburrino Federica , Colangiulo Angela , Bettocchi Ilaria , Cassio Alessandra , Balsamo Antonio

Background: The isodicentric Y (idic Y) is one of the most common aberrations of the Y chromosome. Most patients (pts) are chromosomal mosaics, including 45,X cell line.Objective and hypotheses: Our aim is to describe clinical and molecular features of our 45,X/46,Xidic(Y) cases.Method: We retrospectively evaluate the clinical description of nine cases (six females, one male, two with ambiguous genitalia) with mosaic karyotype 45,X...

hrp0092p2-227 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Screening of Central Precocious Puberty (CPP) in Females: Efficacy of Morning Unstimulated Luteinizing Hormone (mLH) Levels

Baronio Federico , Ortolano Rita , Tonti Giacomo , Vestrucci Benedetta , Cassio Alessandra

Introduction: The gonadotropin releasing hormone stimulation test (GnRHST) is commonly used to screen CPP. Some recent studies reported that morning unstimulated luteinizing hormone levels may be sufficient to discriminate pubertal from prepubertal children. The aim of this study is to evaluate the clinical efficacy of mLH to screen CPP in femalesPatients and Methods: We retrospectively studied the clinical and hormonal ...

hrp0089p3-p267 | Multisystem Endocrine Disorders P3 | ESPE2018

Unusual Clinical Presentation of Autoimmune Polyendocrinopathy Type 1

Baronio Federico , Ortolano Rita , Ferrari Simona , Cassio Alessandra , Maltoni Giulio , Tonti Giacomo , Balsamo Antonio

Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) or autoimmune polyendocrinopathy type 1 (APS-1) is a rare monogenic autosomal recessive disease due to pathogenic variants in the AIRE gene. APECED usually begins during early childhood with chronic mucocutaneous candidiasis (CMC), followed by hypopathyroidism (HP) and AddisonÂ’s disease (AD); however, other endocrine and non-endocrine components may occur with a different prevalen...

hrp0086p1-p364 | Gonads & DSD P1 | ESPE2016

Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX)

Baldazzi Lilia , Menabo Soara , Baronio Federico , Ortolano Rita , Cassio Alessandra , Mazzanti Laura , Balsamo Antonio

Background: Differences of sex development (DSDs) (conditions with atypical development of chromosomal, gonadal or anatomic sex) are classified into three groups: sex chromosome DSD, 46,XYDSD and 46,XX DSD. Around 1 newborn in 5000 presents ambiguous genitalia with a major challenge for male or female assignment. The identification of a genetic cause can contribute to a correct diagnosis and to optimize both management and genetic counselling.<p class="abs...

hrp0089p2-p033 | Adrenals and HPA Axis P2 | ESPE2018

Quantitative Ultrasound Evaluation in a Cohort of 43 Young Adults with Classical CAH due to 21-Hydroxylase Deficiency (21OHD): Is Bone Mineral Quality Impaired?

Baronio Federico , Balsamo Antonio , Ortolano Rita , Massaccesi Nicoletta , Bettocchi Ilaria , Zioutas Maximiliano , Maltoni Giulio , Zucchini Stefano , Cassio Alessandra

Background: In young adults patients (pts) with CAH due to 21OHD few and conflicting data have been reported on bone mineral quality (BMQ) evaluated by quantitative ultrasound (QUS).Objective and hypotheses: To evaluate the bone mineral status by QUS variables assessed at proximal phalanges of the hand in a cohort of young adults with classical CAH due to 21OHD and the possible associations with their clinical and metabolic features.<p class="abstext...

hrp0086p1-p921 | Thyroid P1 | ESPE2016

Differentiated Thyroid Cancer: Onset and Outcome in a Pediatric Population with and without Risk Factors

Baronio Federico , Monari Fabio , Ortolano Rita , Zagni Paolo , Rizzello Angela , Bettocchi Ilaria , Saggese Domenico , Pession Andrea , Cassio Alessandra

Background: Thyroid nodules (TN) are rare in children but often show more aggressive features than in adults. Irradiated childhood cancer survivors (CCS) are at risk for malignant thyroid nodules.Objective and hypotheses: To retrospectively compare the incidence of differentiated thyroid cancer (DTC), the clinical onset and the medium-term follow-up in a pediatric population (EC <18 years), with and without risk factors examined for TN, among 1990 an...