hrp0092p1-422 | Thyroid (2) | ESPE2019

Prospective Evaluation of Autoimmune and Non-Autoimmune Subclinical Hypothyroidism in a Large Cohort of Children and Adolescents with Down Syndrome

Pepe Giorgia , Corica Domenico , De Sanctis Luisa , Salerno Mariacarolina , Felicia Faienza Maria , Tessaris Daniele , Tuli Gerdi , D'Acunzo Ida , Aversa Tommaso , Alibrandi Angela , De Luca Filippo , Wasniewska Malgorzata

Objectives: Subclinical hypothyroidism (SH) is the most common thyroid abnormality in Down Syndrome (DS) children (25-60%); its etiology remains still not completely clarified. Aim of this prospective multicenter study was to evaluate prevalence and natural course of autoimmune and non-autoimmune SH in a large cohort of DS children and adolescents.Methods: The study population included 101 DS patients with SH (TSH 5-...

hrp0092p2-171 | GH and IGFs | ESPE2019

Final Height in GH-deficient Paediatric Patients: A Nationwide Experience

Zucchini Stefano , Lonero Antonella , Bellone Simonetta , Bozzola Mauro , Cassio Alessandra , Felicia Faienza Maria , Giacomozzi Claudio , Grandone Anna , Guzzetti Chiara , Iughetti Lorenzo , Parpagnoli Maria , Salerno Mariacarolina , Elizabeth Street Maria , Tornese Gianluca , Wasniewska Malgorzata , Delvecchio Maurizio

Background: The primary goal of GH treatment in GHD children and adolescents is to normalize height, in order to attain an adult height within the target height (TH) range.Aim: to investigate height improvement in GHD paediatric patients treated with GH in our Country.Subjects: 737 patients with isolated GHD (39.5% females) from 13 tertiary Centres for Paediatric Endocrine Care...

hrp0092p2-232 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Childhood Craniopharyngioma: Clinical Picture at Diagnosis in an Italian Multicentre Study

Menardi Rachele , Driul Daniela , Franco Francesca , Baronio Federico , Pozzobon Gabriella , Gallo Dario , Grossi Armando , Fintini Danilo , Parpagnoli Maria , Nardini Beatrice , Matarazzo Patrizia , Ibba Anastasia , Bruzzi Patrizia , Wasniewska Malgorzata , Salerno Mariacarolina , Fantini Jacopo , Zucchini Stefano

Diagnosis of craniopharyngiomas in childhood is often delayed due to nonspecific symptoms. In Italy all children are followed-up by paediatricians of the NHS and paediatric endocrinologists are present throughout the country. This would theoretically lead to an early diagnosis. We aimed to examine the clinical picture at diagnosis and duration of history before diagnosis in 117 patients (pts) followed-up at Endocrinology Centres belonging to the I.S.P.E.D..<p class="abstex...

hrp0086p1-p34 | Adrenal P1 | ESPE2016

Primary Adrenal Insufficiency in Children: Results from a Large Nationwide Cohort

Capalbo Donatella , Rezzuto Martina , Cappa Marco , Ferro Giusy , Balsamo Antonio , Baronio Federico , Russo Gianni , Stancampiano Marianna , Greggio Nella Augusta , Tosetto Ilaria , Valenzise Mariella , Wasniewska Malgorzata Gabriela , Maghnie Mohamad , Calcagno Annalisa , Radetti Giorgio , Longhi Silvia , Moracas Cristina , Betterle Corrado , Salerno Mariacarolina

Background: Primary adrenal insufficiency (PAI) is a rare life-threatening disorder. Data on PAI in children are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD).Objective and hypotheses: Evaluate etiology of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21-OHD.Method: Children followed in eight tertiary centers wer...

hrp0082p2-d2-604 | Thyroid (1) | ESPE2014

Levothyroxine Requirement in Congenital Hypothyroidism: 12-year Longitudinal Study

Vigone Maria Cristina , Lapolla Rosa , Delvecchio Maurizio , Salerno Mariacarolina , Wasniewska Malgorzata , Popolo Pietro Pio , Mussa Alessandro , Tronconi Giulia Maria , Di Mase Raffaella , D'Acunzo Ida , Falcone Rosa Maria , Corrias Andrea , De Luca Filippo , Weber Giovanna , Cavallo Luciano , Faienza Maria Felicia

Background: The replacement therapy with levo-thyroxine (LT4) in congenital hypothyroidism (CH) aims to ensure normal growth and neuropsychological development. Few data are available about the appropriate dose during childhood and early adolescence.Objective and hypotheses: i) To evaluate LT4/kg per day requirement from diagnosis until 12 years of age; ii) to assess any differences in relation to the different etiology of CH as concern...

hrp0084p3-1175 | Thyroid | ESPE2015

Final Height in Italian Patients with Congenital Hypothyroidism Detected by Neonatal Screening: An Observational Study Over 20 Years

Delvecchio Maurizio , Salerno Mariacarolina , Vigone Maria Cristina , Wasniewska Malgorzata , Lapolla Rosa , Popolo Pietro Pio , Tronconi Giulia Maria , Di Mase Raffaella , De Luca Filippo , Cavallo Luciano , Weber Giovanna , Faienza Maria Felicia

Background: Linear growth in patients with congenital hypothyroidism (CH) born in 1970s and 1980s is reported normal.Objective and hypotheses: To evaluate whether the earlier diagnosis and the higher L-T4 starting dose lead to an improvement in growth and pubertal outcome over the last two decades.Method: Two-hundred and fifteen patients with permanent CH born in 1980s and 1990s (age at diagnosis 25.1&#177...

hrp0094p2-196 | Fat, metabolism and obesity | ESPE2021

Machine Learning Quest for Predictive Markers of Lifestyle Modification Outcomes in Pediatric Obesity Treatment

Gawlik Aneta , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Antosz Aleksandra , Kırkgoz Tarık , Turan Serap , Guran Tulay , Aversa Tommaso , Corica Domenico , Wudy Stefan A. , Hartmann Michaela F. , Gruszczynska Katarzyna , Hochberg Ze’ev ,

Context: The traditional approach to childhood obesity management is lifestyle modification/LSM. Nevertheless, the response rate is variable and difficult to predict.Aim: A systematic search for markers to predict outcomes of simple LSM in pediatric obesity management.Patients/Methods: Out of 240 children with obesity (BMI>97%), recruited to a prospective ‘multi-OMICS’ study granted b...

hrp0098p2-192 | Growth and Syndromes | ESPE2024

Assessment of the rhGH treatment compliance in children based on data from centres in Poland and Italy.

Scheuring Dorian , Corica Domenico , Dragan Wojciech , Pepe Giorgia , Walczak Mieczysław , Lugarà Cecilia , Nowak Katarzyna , Aversa Tommaso , Gabriela Wasniewska Malgorzata , Kołtowska-Häggström Maria , Petriczko Elżbieta

Objective: To identify factors influencing compliance with daily recombinant growth hormone (rhGH) therapy in children and adolescents with growth hormone deficiency (GHD) and born as small for gestational age (SGA) based on data from two European paediatric endocrinology centres.Study population and methods: The study population included 130 patients with GHD or SGA from Szczecin (Poland) and Messina (Italy); 53% of pat...

hrp0098p2-265 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Gonadal function and outcome in 46, XX testicular/ovotesticular DSD – first round collection data from the I-DSD Registry study.

Sepich Margherita , Bertelloni Silvano , Tyutyusheva Nina , Lucas-Herald Angela , Mazen Inas , Cools Martine , Poyrazoğlu Şükran , Hiort Olaf , Döhnert Ulla , Neumann Uta , Phan-Hug Franziska , Atapattu Navoda , Nimali Seneviratne Sumudu , Markosyan Renata , Suco Sofía , Baronio Federico , Lichiardopol Corina , Verkauskas Gilvydas , Rita Stancampiano Marianna , Russo Gianni , Konrad Daniel , Lenherr-Taube Nina , E Hannema Sabine , Thankamony Ajay , Gazdagh Gabriella , G Peroni Diego , Faisal Ahmed S

Background: Testicular and ovo-testicular 46,XX-DSD are very rare conditions that have a variable presentation and often pose challenging questions regarding long-term outcome of gonadal function.Methods: Eligible cases were identified in the I-DSD Registry and centres were asked to update the clinical dataset to their last available assessment. The cases were categorised by assigned sex and age categories. Elevated and ...

hrp0092p1-300 | Adrenals and HPA Axis (2) | ESPE2019

Growth Trajectory and Final Height in Children with Non Classical Congenital Adrenal Hyperplasia

Wasniewska Malgorzata , Morabito Letteria Anna , Baronio Federico , Einaudi Silvia , Salerno Maria Carolina , Bizzarri Carla , Russo Gianni , Chiarito Mariangela , Grandone Anna , Guazzarotti Laura , Spinuzza Antonietta , Di Carlo Silvia , Ortolano Rita , Balsamo Antonio , Abrigo Enrica , Ferroli Barbara Baldini , Alibrandi Angela , Capalbo Donatella , Faienza Maria Felicia

Background: Subjects with non classical congenital adrenal hyperplasia (NCCAH) often present an increased growth velocity secondary to elevation of adrenal androgens that promote early bone maturation and compromise final height (FH). The aim of the study was to analyze prognostic factors affecting growth trajectory and FH in children with NCCAH.Design: retrospective, multicentric studyStud...