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...

hrp0082p1-d1-147 | Growth | ESPE2014

The Role of SHOX Gene in Idiopathic Short Stature: an Italian Multicenter Study

Minari R , Vottero A , Azzolini S , Barbaro D , Bindi G , Bozzola M , Burrai C , Cardinale G M , Cioffi D , Cisternino M , Coccioli M S , Delvecchio M , Fabbrizi E , Ferrari M , Gallarotti F , Gallo F , Ghizzoni L , Maggio M C , Mainetti B , Montinaro R , Municchi G , Panariello A , Parpagnoli M , Perrone L , Petraroli M , Radetti G , Radicioni A F , Rossodivita A , Salerno MC , Savasta S , Seminara S , Tafi L , Tomat M , Tummolo A , Wasniewska M , Iughetti L , Bernasconi S

Background: The short stature homeobox-containing (SHOX) gene, located in the telomeric pseudoautosomal region 1 (PAR1) on the short arm of both sex chromosomes, is important for linear growth.Objective and hypotheses: The aim of our study was to evaluate the presence of SHOX gene deletions/point mutations in children with short stature in order to understand the role of SHOX gene in idiopathic short stature (ISS) and estimate its frequency.<p class=...

hrp0094p1-167 | Growth B | ESPE2021

Sex differences in growth response to GH treatment: more prepubertal and less pubertal gain in girls diagnosed with IGHD, ISS, SGA. Analysis of data from GH-SAFETY-database, including all children treated with rhGH- 1986-2009 in Sweden, in National-GH-Registry and rhGH-clinical-trials.

Lundberg Elena , Kristrom Berit , Pivodic Aldina , Albertsson-Wikland Kerstin ,

Background: Due to fewer girls than boys being GH-treated, after 50yrs the knowledge about sex-differences in both GH-response and GH-responsiveness before and during puberty remains limited.Aim: To describe factors explaining growth response to GH-treatment, separately in girls and boys from GHstart to adult height (AH).Methods: Children diagnosed with IGHD/ISS/SGA from GH-SAFETY-...

hrp0089p3-p347 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Genital Swelling and Ovarian Stimulation Syndrome in an Extremely Preterm Infant

Cristina Azcona Maria , Ochotorena Amaia , Prados Monica , Luis Leon Jose , Alzina Valentin

Introduction: Ovarian stimulation syndrome (OSS) in an infrequent disorder, in preterm infants under 30 weeks gestation. The are very few cases described in the literature. The immaturity, lack of gonadal axis feed-back or mutations in the FSH receptor genes, may explain its physiopathology. We present the case of a 26-week neonate with this syndrome.Case summary: 26-week newborn with extremely low weight (460g) born by emergency cesarean section due to ...

hrp0086p1-p752 | Pituitary and Neuroendocrinology P1 | ESPE2016

A Novel MKRN3 Frameshift Mutation in a Bulgarian Girl with Central Precocious Puberty

Dimitrova Mihaela , Stefanova Elisaveta , Glushkova Maria , Todorova Albena , Todorov Tihomir , Konstantiva Maia , Kazakova Krasimira , Tincheva Radka

Background: Precocious puberty is defined as the onset of pubertal signs in girls younger than 8 years of age and in boys younger than 9 years of age. Central precocious puberty is due to an early activation of the hypothalamic-pituitary-gonadal axis. Different candidate genes were involved in the etiology of the disease. To date, mutations in the maternally imprinted gene MKRN3 are most frequently found in families with CPP.Objective and hypotheses: The...

hrp0082p3-d1-624 | Adrenals &amp; HP Axis | ESPE2014

Genotype–Phenotype Correlations in Bulgarian Patients with c.293-13A/C>G Splice Mutation of 21CYPA2 Picked up by Neonatal Screening (NS)

Stoeva Iva , Dineva Ganka , Kirov Andrey , Kostova Antoaneta , Todorov Tihomir , Aroyo Ani , Todorova Albena , Mitev Vanio

Background: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by defects in one of the several adrenal steroidogenic enzymes. 80–95% of CAH are due to mutations in CYP21A2 gene encoding 21 hydroxylase. Its residual activity defines the clinical form. Except deletions and large gene conversions, nine pseudogene-derived mutations are responsible for 95% of all CAH alleles. The mutational distribution varies between diffe...

hrp0082p3-d1-626 | Adrenals &amp; HP Axis | ESPE2014

Cyp21a2 Mutation Spectrum in Bulgarian Cah Patients

Todorova Albena , Kirov Andrey , Stoeva Iva , Todorov Tihomir , Dineva Ganka , Kostova Antoaneta , Aroyo Ani , Mitev Vanio

Background: Congenital adrenal hyperplasia (CAH) is a group of inborn errors of steroidogenesis. It is mainly caused by steroid 21-hydroxylase coding gene (CYP21A2) mutations. More than 30% of the CYP21A2 mutations are deletions, with ethnic specific differences. The Bulgarian mutational spectrum of CYP21A2 gene is unknown.Objective and hypotheses: To determine CYP21A2 mutation spectrum in Bulgarian CAH patients.<p...