hrp0082p2-d3-345 | Diabetes (2) | ESPE2014

Improvement in Type 1 Diabetes Mellitus Metabolic Control: From Conventional to Functional Insulin Therapy

Serra-Caetano Joana , Ferreira Sara , Lourenco Helena , Aveiro Lina , Batista Nanci , Freitas Filomena , Simao Luisa , Cardoso Rita , Dinis Isabel , Mirante Alice

Background: Type 1 diabetes mellitus (1DM) is a common chronic disease of childhood. Treatment targets the best metabolic control in order to prevent long-term complications.Objective: To evaluate metabolic control in children and adolescents with 1DM along the years. Methods: Retrospective study including 1DM children and adolescents with more than 2 years of disease. Data were collected at 2005 and at 2012: sex, age at diagnosis, therapy in the last ye...

hrp0094p1-164 | Growth B | ESPE2021

Long-term efficacy and safety of rhGH in children with SHOX deficiency: preliminary data of a national Italian survey (on behalf of ISPED Study Group on Growth Factors and Puberty).

Bruzzi Patrizia , Vannelli Silvia , Scarano Emanuela , Street Maria Elisabeth , Parpagnoli Maria , Trettene Adolfo Andrea , Wasniewska Malgorzata , Madeo Simona Filomena , Iughetti Lorenzo ,

Background: The phenotypic spectrum of short stature homeobox-containing gene deficiency disorders (SHOX-D) ranges from non-specific short stature to Leri-Weill dyschondrosteosis. Current guidelines support rhGH in SHOX-D children, but long-term data are still lacking. Moreover, no correlation has been established yet between the severity of phenotype, including the response to rhGH, and the underlying SHOX pathogenic variant.Aims: To ev...

hrp0097p1-557 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Novel LHX4 rare variant in three patients affected by congenital hypopituitarism, presenting a further co-occurrent desease causing variants in GLI2 and IGF1R

Aiello Francesca , Luongo Caterina , Pascarella Filomena , Rosaria Licenziati Maria , Laura Torella Anna , Del Vecchio Blanco Francesca , miraglia del giudice emanuele , Nigro vincenzo , Santoro Claudia , grandone anna

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...

hrp0095p1-413 | Adrenals and HPA Axis | ESPE2022

Incidence and severity of Coronavirus Disease 2019 (COVID-19) in children with primary and secondary adrenal insufficiency during the pandemic in Italy

Moracas Cristina , Russo Gianni , Baronio Federico , Ortolano Rita , Rita Stancampiano Marianna , Cavarzere Paolo , Zoller Thomas , Longhi Silvia , Felicia Faienza Maria , Patti Giuseppa , Elisabeth Street Maria , Guzzetti Chiara , Valenzise Mariella , Giavoli Claudia , Salerno Mariacarolina , Capalbo Donatella

Background: Adrenal insufficiency (AI) is a rare condition caused by an inadequate production of glucocorticoids. Preliminary data in adults suggest that AI could be associated with an increased susceptibility to infections; moreover, AI patients are at risk to develop a severe course of infectious diseases and to experience a life-threatening adrenal crisis. The aim of our study is to evaluate the severity and the outcome of COVID-19 in pediatric AI patients ...

hrp0095p1-561 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A new DLK1 defect in a family with idiopathic CPP: elucidation of the male phenotype

Palumbo Stefania , Cirillo Grazia , Sanchez Gianmaria , Fachin Alice , Baldo Francesco , Grazia Pellegrin Maria , Cassio Alessandra , Carolina Salerno Maria , Maghnie Mohamad , Felicia Faienza Maria , Wasniewska malgorzata , Fintini Danilo , Giacomozzi Claudio , Ciccone Sara , Miraglia Del Giudice Emanuele , Tornese Gianluca , Grandone Anna

Introduction: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. Mutations in the imprinted gene MKRN3 are the most common monogenic form of CPP. Recently, attention was directed to DLK1, another imprinted gene. Defects in this gene resulted to be a rare cause of CPP in girls and adult women with precocious menarche, obesity and metabolic derangement. We aimed to investigate a cohort of female and male p...

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...

hrp0082fc5.2 | Neuroendocrinology | ESPE2014

Mutations in the Maternally Imprinted Gene MKRN3 are a Frequent Cause of Familial Central Precocious Puberty

Mekhail Nancy , Ba Ibrahima , Simon Dominique , Paulsen Anne , Zenaty Delphine , Houang Muriel , Jesuran-Perelroizan Monique , de Filippo Gianpaolo , Salerno Maria Carolina , Carel Jean-Claude , Leger Juliane , de Roux Nicolas

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotype–phenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...