hrp0092p1-323 | Diabetes and Insulin (2) | ESPE2019

Diabetes Type 2 in Non-Obese Neurologically Impaired Children and Adolescents: A New Emerging Entity?

Calcaterra Valeria , Regalbuto Corrado , Montalbano Chiara , Vinci Federica , De Silvestri Annalisa , Pelizzo Gloria , Cena Hellas , Larizza Daniela

Background: Insulin resistance (IR) plays a key role in the pathogenesis of type 2 diabetes (T2D). In neurologically impaired (NI) children unfavorable cardio-metabolic risk profile with high prevalence of IR has been reported. We evaluated the prevalence of T2D in NI children and adolescents, in order to define if a dedicated glucose monitoring may be recommended in these subjects.Patients and Methods: We retrospectivel...

hrp0092lb-18 | Late Breaking Posters | ESPE2019

Exploratory Case-Control Study on ACE2 Expression in Children with Short Stature

Tornese Gianluca , Tonon Federica , Nicolardi Francesca , Chiara Pellegrin Maria , Toffoli Barbara , Faleschini Elena , Barbi Egidio , Fabris Bruno , Bernardi Stella

Background: Short stature is one of the most common presentations to paediatric endocrinologists. It is estimated that despite all the exams, in 50–90% of cases, children are labeled as having idiopathic short stature. It has been recently reported that genetic ACE2 deficiency is associated with reduced body weight as well as with impaired gestational weight gain and fetal growth restriction in pregnancy. It has been argued that ACE2 deficiency, which...

hrp0092p3-98 | Fat, Metabolism and Obesity | ESPE2019

High Allostatic Load in Children with Excess of Weight

Calcaterra Valeria , Montalbano Chiara , Vinci Federica , Regalbuto Corrado , Casari Giulia , De Silvestri Annalisa , Cena Hellas , Larizza Daniela

Objective: Allostatic load (AL) refers to the physiological response that occurs in chronic stress burden, Excessive weight gain is an important source of physiological stress promoting chronic low-inflammation state detrimental for health. We estimated AL score among a pediatric population, in order to define a correlation between cumulative biological dysregulation and excess weight.Methods: We enrolled 164 children an...

hrp0092p3-115 | Fat, Metabolism and Obesity | ESPE2019

Gender-Based Differences in the Clustering of Metabolic Syndrome Factors in Children and Adolescents

Calcaterra Valeria , Regalbuto Corrado , Vinci Federica , Montalbano Chiara , Dobbiani Giulia , De Silvestri Annalisa , Cena Hellas , Larizza Daniela

Background: we depicted gender-differences in metabolic syndrome (MS) clustering before and after puberty in pediatrics, to identify early childhood prevention intervention and treatments.Methods: We considered 1079 children and adolescents. According to body mass index (BMI) percentiles the subjects were classified as normal weight BMI<75th, overweight BMI 75-95th and with obesity BMI>95th....

hrp0089p1-p047 | Diabetes &amp; Insulin P1 | ESPE2018

Smoke Exposure and Cardio-metabolic Profile in Youth with Type 1 Diabetes

Calcaterra Valeria , Cena Hellas , Schiamo Luca Maria , Montalbano Chiara , Regalbuto Corrado , De Filippo Maria , Klersy Catherine , Larizza Daniela

Aim: To evaluate the relationship between smoking and metabolic parameters in patients affected by type 1 diabetes (T1D)Patients and methods: We enrolled 104 children and young adults (50 females and 54 males) with T1D (aged 16.4±8.6 years). The subjects were divided into three groups according to their smoking habits: no smoking (NS), passive smoking (PS), active smoking (AS). The physical examination of the participants included nutritional status...

hrp0089p2-p262 | Growth &amp; Syndromes P2 | ESPE2018

Identification of a Novel Heterozygous ACAN Mutation in a Patient with Non-Syndromic Short Stature

Partenope Cristina , Gallo Dario , Damia Chiara Maria , Adavastro Marta , Fioretti Lorenzo , Pitea Marco , Weber Giovanna , Pozzobon Gabriella

Aggrecan, encoded by ACAN, is a major proteoglycan component in the extracellular matrix of the growth plate. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature. A 6-year-old boy was referred to our Centre for short stature (height 103.60 cm, −3.14 SDS) in familial short stature. Mid-Parental target height was 161.15 cm (−2.38 SDS); His father (height 167.3 cm) is from...

hrp0089p2-p323 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Growth Hormone Deficiency (GHD) in a Patient with Persistence of the Craniopharyngeal Canal with Cephalocele

Caiulo Silvana , Pitea Marco , Partenope Cristina , Gallo Dario , Damia Chiara , Adavastro Marta , Fioretti Lorenzo , Barera Graziano , Weber Giovanna , Pozzobon Gabriella

The patient was referred to our Centre for short stature. Weight and length at birth were within normal limits. In the neonatal period he showed jaundice and hypoglycemia. A reduced growth velocity was reported from the age of six months. At 15 months his length was 70 cm (−3.75 SDS), his weight 8.1 kg (−2.26 SDS). Parental target height was 167.6 cm (−1.38 SDS). He had normal psychomotor development. The examination showed macrocrania and nasal voice. Blood ...

hrp0089p3-p293 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Two Identical Twins … But not in Everything. A Difficult Diagnosis

Damia Chiara Maria , Gallo Dario , Partenope Cristina , Pitea Marco , Fioretti Lorenzo , Adavastro Marta , Pajno Roberta , Weber Giovanna , Barera Graziano

GR and GT are diamniotic monochorial preterm twins (32 GA), both AGA (GR: W -1 SDS, L -1.5 SDS; GT: W and L 0 SDS), with normal karyotype and array-CGH on amniotic fluid, with no major complications associated to prematurity. At birth GT presented bilaterally cryptorchidism associated with micropenis, GR presented normal male genitalia. In the first year of life a severe growth deceleration in length (from -3SDS to -5 SDS) was observed, mainly after six months of life in both ...

hrp0086p2-p648 | Growth P2 | ESPE2016

Congenital Hypopituitarism: Genotypic–Phenotypic–Neuroradiological Correlation

Pozzobon Gabriella Cinzia , Partenope Cristina , Gallo Dario , Damia Chiara , Lezzi Marilea , Pajno Roberta , Marinella Gemma , Osimani Sara , Weber Giovanna

Background: Congenital hypopituitarism is a rare cause of pituitary insufficiency (incidence: 12–42 new cases/million per year; prevalence: 300–455 cases/million). The aetiology remains largely unclear: the most frequently correlated genetic abnormalities are those involving transcription factors implicated in pituitary organogenesis. The phenotype and neuroradiological findings associated with the underlying genotype may be highly variable (from an isolated hypopitu...

hrp0086p2-p657 | Growth P2 | ESPE2016

Septo-Optic Dysplasia and Excellent Growth with Low Growth Hormone Dose: Our Experience

Pozzobon Gabriella Cinzia , Marinella Gemma , Damia Chiara , Partenope Cristina , Gallo Dario , Pajno Roberta , Osimani Sara , Weber Giovanna

Background: Septo-optic dysplasia (SOD) is a congenital, rare anomaly (1:10 000) associated with optic nerve hypoplasia, midline brain abnormalities and pituitary hormone abnormalities. Genetic alterations associated are: HESX1, SOX2 and SOX3. SOD’s pattern of growth even without GH treatment has been reported to be often good.Objective and hypotheses: Evaluate SOD’s growth in patients followed in our Centre.Method: See F...