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...

hrp0082p3-d1-709 | Diabetes | ESPE2014

Continuous Subcutaneous Insulin Infusion Therapy in Preschool Children with Type 1 Diabetes Mellitus

Moinho Rita , Martins Dora , Almeida Angela , Maia Estefania , Batista Nanci , Aveiro Lina , Capitao Rita , Cardoso Rita , Dinis Isabel , Mirante Alice

Background: A good metabolic control in preschool children with type 1 diabetes (DM1) is particularly challenging, being easier and safer with continuous subcutaneous insulin infusion (CSII) compared with multiple daily injections (MDI).Objective and hypotheses: Evaluate and compare metabolic control of preschool children with DM1, before and 9 months after CSII therapy.Method: Analytical retrospective study of children under the a...

hrp0082p3-d3-794 | Fat Metabolism & Obesity (2) | ESPE2014

Prader–Willi Syndrome: Reports of Two Patients with Congenital Abnormalities of Kidney and Urinary Tract

Tamburrino Federica , Scarano Emanuela , Mencarelli Francesca , Perri Annamaria , Colangiulo Angela , Siroli Benedetta , Martini Anna Lisa , Mazzanti Laura

Background: Prader–willi syndrome (PWS) is characterized by decreased fetal activity, obesity, muscular hypotonia, MR, short stature, hypogonadism and small hands and feet. Little information is available concerning PWS and kidney involvement.Objective and hypotheses: We report two patients with PWS and congenital abnormalities of kidney and urinary tract (CAKUT).Method: First case: male, born at 35 weeks with caesarian sectio...

hrp0084p1-5 | Adrenal | ESPE2015

Genetic Heterogeneity in Triple A Syndrome: Discrimination of the Classic Syndrome from Two Triple A-Like Syndromes

Huebner Angela , Reschke Felix , Kurth Ingo , Kutzner Susann , Utine Eda , Hazan Filiz , Landgraf Dana , Hubner Christian A , Koehler Katrin

Background: Triple A syndrome is a rare autosomal recessive disorder characterized by adrenal failure, alacrima, achalasia, and a variety of neurological features. In 70% of the families it is caused by mutations in the AAAS gene. Linkage analyses indicated genetic heterogeneity and exome sequencing revealed two further genes causing triple A-like syndromes.Objective and hypotheses: To summarise the genotypes and phenotypes of classic triple A s...

hrp0084p1-99 | Growth | ESPE2015

GH Hypersecretion in Children with NF1 and Optic Pathway Gliomas

Pedicelli Stefania , Cambiaso Paola , Macchiaiolo Marina , Galassi Stefania , Mastronuzzi Angela , Del Bufalo Francesca , Ubertini Graziamaria , Cappa Marco

Background: The association of NF1 with optic pathway glioma (OPT) and GH hypersecretion was initially described in some isolated cases, while the presence of PP was more frequently reported in these patients. Association of gigantism and precocious puberty (PP) in five children with OPT (isolated in two and associated with NF1 in three cases) has been recently published.Aims: To evaluate the frequency of GH hypersecretion in children with NF1 and OPT, t...

hrp0084p2-243 | Diabetes | ESPE2015

Dyslipidaemia in Children with Diabetes

Lim Pei Kwee , Vasanwala Rashida , Cheng Tuck Seng , Lek Ngee , Hui Yuen Ching Angela , Lim Soo Ting , Yap Fabian

Background: Data on prevalence and phenotypic distribution of dyslipidaemia in children with type 1 diabetes (T1D) is scarce. Studies have shown that lipid abnormality tracks from childhood to adulthood and contributes to atherosclerotic process, therefore initial assessment and follow-up is essential.Aims: To study the prevalence and phenotypic distribution of dyslipidaemia in children with T1D and compare with type 2 diabetes (T2D).<p class="abstex...

hrp0084p2-502 | Perinatal | ESPE2015

Auxological Parameters, Endocrine Growth Factors and Insulin Resistance from Birth to 12 Months of Life in Children Born Small for Gestational Age

Guazzarotti Laura , Mauri Silvia , Occhipinti Federica , Petruzzi Mariangela , Sonnino Micol , Tenconi Andrea Angela , Pogliani Laura , Zuccotti Gian Vincenzo

Background: At present, literature regarding postnatal growth in small for gestational age (SGA) subjects and itsÂ’ correlation with growth factor levels is still controversial. A relation between IGF1 and IGFBP3 levels at birth and weight and length catch up growth has been demonstrated. In the first months of life a rapid weight catch-up growth has also been associated to an increase of leptin, basal insulin and insulin resistance.Objective and hyp...

hrp0084p3-984 | Gonads | ESPE2015

Management of Prepubertal Gynecomastia in Two Patients with Peutz-Jeghers Sydrome: Use of Aromatase Inhibitors

Guazzarotti Laura , Mauri Silvia , Occhipinti Federica , Petruzzi Mariangela , Sonnino Micol , Tenconi Andrea Angela , Pogliani Laura , Zuccotti Gian Vincenzo

Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal-dominant disorder frequently caused by the serine-threonine-kinase-11(STK11) gene mutation and characterized by hamartomatous polyps throughout the gastrointestinal tract, mucocutaneous hyperpigmentation and predisposition to several malignancies. Rarely, PJS may be associated to an oestrogen producing large cell calcifying Sertoli cell tumour that may result in gynecomastia and increased growth velocity (GV).<p ...

hrp0094p2-189 | Fat, metabolism and obesity | ESPE2021

Prospective evaluation of liver stiffness in obese children: the role of shear wave elastography.

Corica Domenico , Bottari Antonio , Aversa Tommaso , Anna Morabito Letteria , Curatola Selenia , Alibrandi Angela , Ascenti Giorgio , Wasniewska Malgorzata ,

Objectives: The increased incidence of childhood obesity and related non-alcoholic fatty liver disease (NAFLD) has determined the need to identify a non-invasive technique to diagnose and monitor NAFLD. Two-dimensional shear wave elastography (2D-SWE) has emerged as a reliable, non-invasive, tool to evaluate liver tissue elasticity in clinical practice. Aims of this study were to longitudinally evaluate 2D-SWE changes in relation to weight loss, metabolic prof...

hrp0097rfc3.1 | Fat, metabolism and obesity 1 | ESPE2023

Fasting and meal-related zonulin serum levels in a large cohort of obese children and adolescents: a cross sectional study

Pepe Giorgia , Corica Domenico , Currò Monica , Aversa Tommaso , Alibrandi Angela , Bottari Marianna , Ientile Riccardo , Caccamo Daniela , Wasniewska Malgorzata

Background: due to its recently documented role in intercellular tight junction disassembly, zonulin has emerged as a valuable biological marker to assess the integrity of the intestinal mucosal barrier. Experimental studies have shown an association between intestinal permeability and obesity.Objectives: aim of this study was to investigate the relationship between serum zonulin levels, both at baseline and postprandial...