hrp0082p2-d2-303 | Bone (1) | ESPE2014

Cleidocranial Dysplasia Misdiagnosed as Rickets in Three Generations

Franceschi Roberto , Maines Evelina , Fedrizzi Michela , Rosaria Piemontese Maria , Bellizzi Maria , Cauvin Vittoria , Di Palma Annunziata

Background: Cleidocranial dysplasia (CCD; MIM 119600) is a rare congenital autosomal dominant skeletal dysplasia characterized by hypoplastic or aplastic clavicles, late closure of the fontanelles, open skull sutures, dental anomalies, moderately short stature and a variety of other skeletal features. CCD is caused by mutations, deletions or duplications in the runt-related transcription factor 2 gene (RUNX2), which encodes for a protein essential for osteoblast differentiatio...

hrp0084p3-641 | Bone | ESPE2015

Evaluation of Bone Geometry, Quality and Bone Markers in Children with Type 1 Diabetes

Longhi Silvia , Franceschi Roberto , Cauvin Vittoria , Gallo Giuseppe , Lupi Fiorenzo , Reinstadler Petra , Radetti Giorgio

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children wi...

hrp0082p1-d1-68 | Diabetes | ESPE2014

Evaluation of Bone Geometry, Quality, and Bone Markers in Children with Type 1 Diabetes

Longhi Silvia , Franceschi Roberto , Cauvin Vittoria , Gallo Giuseppe , Lupi Fiorenzo , Reinstadler Petra , Radetti Giorgio

Background: Several studies have examined the relationship between type 1 diabetes and bone mass, which reported contradictory data on BMD, bone remodelling markers, and bone quality. Nevertheless an incresead prevalence of osteopenia was observed among patients with duration of disease of >6 years.Objective and hypotheses: The aim of the study was to investigate the potential negative impact of type 1 diabetes on bone status in a group of children w...

hrp0082p3-d1-700 | Diabetes | ESPE2014

Diabetic Ketoacidosis in Children with T1DM: an Italian Multicentre Survey

Zucchini Stefano , Bonfanti Riccardo , Buono Pietro , Cardella Francesca , Cauvin Vittoria , Cherubini Valentino , Chiari Giovanni , D'Annunzio Giuseppe , Paola Frongia Anna , Iafusco Dario , Maltoni Giulio , Ippolita Patera Patrizia , Scaramuzza Andrea , Toni Sonia , Tumini Stefano , Rabbone Ivana

Background: Data regarding epidemiology and management of Diabetic Ketoacidosis (DKA) in Italian children with T1D at disease onset are lacking.Method: From 1/1/2012 to 31/12/2013 a survey on DKA was conducted in all paediatric Centres belonging to the Italian Society for Pediatric Diabetology and Endocrinology. DKA was defined according to the ISPAD criteria. The following data were collected: treatment according ISPAD protocol yes or not, type of rehyd...

hrp0084p1-32 | Diabetes | ESPE2015

Aetiological Diagnosis of Diabetes in Italian Diabetic Children and Adolescents

Delvecchio Maurizio , Salzano Giuseppina , Mozzillo Enza , Frontino Giulio , Patera Ippolita Patrizia , Toni Sonia , Rabbone Ivana , Cherubini Valentino , Tumini Stefano , D'Annunzio Giuseppe , Iughetti Lorenzo , Maltoni Giulio , Cauvin Vittoria , Marigliano Marco , Barbetti Fabrizio

Background: Type 1 diabetes (T1D) is the most frequent etiology in Italian diabetic children and adolescents. Data on type 2 (T2D) and monogenic diabetes (MD) prevalence are scanty.Objective and hypotheses: To estimate the prevalence of T1D, T2D, secondary diabetes, and MD in a pediatric population of Italian diabetic patients.Method: Data on 3,076 patients (diabetes onset January 2007–December 2012, age at diagnosis <18 y...

hrp0094p2-139 | Diabetes and insulin | ESPE2021

Different schemes of insulin therapy (CSII and MDII) in children with DM1 in a Dnipro city.

Yenhovatova Viktoria , Zelinska Nataliya , Globa Evgenia ,

Background: Due to the Ukrainian Pediatric Diabetes Register (UPDR) the number of children with DM1 0-17 y.o. in 2019 was 9860 (1 in 769), with Dm2 36 (1 in 210,547) with neonatal DM (NDM) 66 (1 in 115,000), with MODY 40 cases (1 in 114,844). The diabetes prevalence rates increased from 9.3 (per 1000) in 2007 up to 12,57 (per 1000) in 2018. CSII is well established in pediatric patients with DM1. Most studies focus on such parameters as HbA1c levels...

hrp0092p1-107 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Secular Trend of Age at Menarche and Stature in Tuscan Girls: A Retrospective Study in The Birth Cohort 1995-2003

Ferrari Vittorio , De Masi Salvatore , Ricci Franco , Ciofi Daniele , Stagi Stefano

Introduction: Developed countries have shown, among the 20th century, a time trend towards a younger age at menarche. Tanner described an anticipation of 3 months every decade. In the last two decades of twenty century we have observed an apparent stabilization of menarche age in most of Western countries.Objective: analyze average age of menarche in Tuscany girls and compare our results with those in literatu...

hrp0089p3-p261 | Growth &amp; Syndromes P3 | ESPE2018

Leri-Weill Syndrome Phenotype with Atypical Cytogenetic Finding

Mladenov Vilhelm , Iotova Violeta , Angelova Lydmila , Stoyanova Milena , Bogdanova Viktoria

Introduction: Leri-Weill dyschondrosteosis (LWD) is caused by haploinsufficiency of the SHOX gene, located in the pseudoautosomal region (PAR 1) of the short arm of the X and Y chromosomes. The gene is expressed in highest levels in bone tissue and its product likely controls the chondrocyte apoptosis. Deletions and duplications are most frequent, point mutations are responsible for minority of the cases. The main clinical symptoms of LWD include disproportionate short stature...

hrp0094p2-169 | Diabetes and insulin | ESPE2021

Case of HNF1B MODY

Yenhovatova Viktoria , Zelinska Nataliya , Globa Evgenia , Patel Kashyap ,

Background: MODY HNF1B variants are most frequently associated with extra-pancreatic manifestations like renal cysts [leading to renal cysts and diabetes (RCAD) syndrome], abnormalities of the uro-genital tract and hypomagnesemia, but may also cause MODY or renal structural disease in isolation, therefore cases of HNF1B MODY still remained largely undiagnosed. In Ukraine, there are currently three patients with MODY HNF1B de novo who...

hrp0094p2-411 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Rationale for a reduced dexamethasone dose in prenatal congenital adrenal hyperplasia therapy based on pharmacokinetic modelling

Neumann Uta , Stachanow Viktoria , Blankenstein Oliver , Fuhr Uwe , Huisinga Wilhelm , Reisch Nicole , Kloft Charlotte

Context: Prenatal dexamethasone (Dex) therapy is used in female foetuses with congenital adrenal hyperplasia (CAH) to suppress adrenal androgen excess and prevent virilisation of the external genitalia. The prenatal dexamethasone dose of 20 µg/kg/d has been used for decades in prenatal CAH. Despite the risks for the treated mother and potentially for the unborn child, no clinical study or evaluation had been conducted in order to determine a Dex dose with a scientific rat...