hrp0086p1-p487 | Fat Metabolism and Obesity P1 | ESPE2016

Hypercholesterolemia in Childhood: How the Response to Diet could Lead to Diagnosis. Lesson from a Case-Report

Bruzzi Patrizia , Predieri Barbara , Filomena Madeo Simona , Rabacchi Claudio , Tarugi Patrizia , Calandra Sebastiano , Iughetti Lorenzo

Background: Sitosterolemia is a rare autosomal recessive disorder characterized by intestinal hyperabsorption and decreased biliary excretion of dietary plant sterol, due to mutations in adenosine-triphosphate (ATP)-binding-cassette (ABC) transporter family (ABCG8 and ABCG5).Case report: A 7.86 years old boy was referred to the Childhood Lipid Clinic due to incidental finding of hypercholesterolemia: total cholesterol 524 mg/dl (13.54 mmol/l), LDL-choles...

hrp0086p2-p940 | Thyroid P2 | ESPE2016

An Unusual Case of Impaired Renal Function and Thrombocytopenia

Cima Luminita Nicoleta , Lungu Adrian , Ionescu Bogdan , Lambrescu Ioana Maria , Barbu Carmen Gabriela , Fica Simona

Background: Autoimmune thyroid disease can be sometimes associated with autoimmune thrombocytopenia and decreased renal function.Case report: A 17-year-old female patient was referred to our endocrine department for evaluation of hypothyroidism (TSH=150 mcIU/ml, FT3=0 pg/ml, FT4<0.1 ng/dl) presenting severe fatigability and myalgia. From her medical history we mention that she was diagnosed with thrombocytopenia 1 year ago (85.000/mm...

hrp0082p1-d1-240 | Thyroid | ESPE2014

A Novel Mutation in the TITF1 Gene in a Child with Benign Hereditary Chorea

Patianna Viviana Dora , Predieri Barbara , Garavelli Livia , Fusco Carlo , Madeo Simona Filomena , Bruzzi Patrizia , Iughetti Lorenzo

Introduction: Benign hereditary chorea (BHC) is a rare, autosomal dominant disorder, described as a non-progressive chorea of early onset. BHC can present as single neurologic disorder (13%), brain and thyroid disease (30%) or ‘brain–lung–thyroid syndrome’ with congenital hypothyroidism and neonatal respiratory distress syndrome (50%).Case Report: 18 months old infant was admitted to the Endocrinology Outpatient Clinic with motor dela...

hrp0082p2-d2-434 | Growth Hormone (1) | ESPE2014

Metabolic Assessment in Children with GH Deficiency Before, During, and After Human GH Replacement Therapy

Predieri Barbara , Mazzoni Silvia , Paraluppi Valentina , Patianna Viviana , Lucaccioni Laura , Madeo Simona , Bruzzi Patrizia , Iughetti Lorenzo

Background: GH has several effects on lipid and glucose homeostasis. In adults GH deficiency (GHD) has been associated to increased mortality for cardiovascular disease (CVD). In childhood few studies have investigated the effect of GHD and recombinant human GH (rhGH) therapy on metabolic parameters that may increase the risk of CVD.Objective and hypotheses: To assess changes of lipid profile, insulin-resistance indexes, and CVD risk in children and adol...

hrp0084p3-914 | Fat | ESPE2015

Association of Serum Levels of 25(OH) Cholecalciferol and Childhood Obesity

Iezzi Maria Laura , Varriale Gaia , Megalooikonomou Anastasios , Di Loreto Simona , Zagaroli Luca , Torge Nunzia

Background: Vitamin D is now recognised as a prohormone, essential for the maintenance of mineral homeostasis, calcium metabolism and normal skeletal architecture. 30 ng/ml or greater can be considered sufficient serum levels. The prevalence of vitamin D deficiency among severely obese children is almost 49% caused by the fact that it is sequestered in the larger body pool of fat of such individuals, being vitamin D fat soluble. Vitamin D deficiency has been recently associate...

hrp0084p3-919 | GH &amp; IGF | ESPE2015

Familial Short Stature Associated to Terminal Microdeletion of 15q26.3: Variable Phenotype not Involving the IGF1 Receptor Gene

Lucaccioni Laura , Madeo Simona F , Stanghellini Ilaria , Bruzzi Patrizia , Predieri Barbara , Iughetti Lorenzo , Percesepe Antonio

Background: Terminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26 mon...

hrp0094p2-213 | Fat, metabolism and obesity | ESPE2021

Influence of birth weight on cardiovascular risk factors in obese children and adolescents

Paraluppi Valentina , Casano Simona , Guzzetti Chiara , Ibba Anastasia , Murianni Agnese , Gallo Manuela , Casula Letizia , Loche Sandro ,

Background: Birth weight (BW) is associated with the development of obesity, insulin resistance and type-2 diabetes in adulthood. The results of studies on the correlation between BW and the severity of obesity and cardiovascular risk factors (CVRF) among obese children are contradictory. The objective of our study was to evaluate the association between birth weight and the presence of CVRF in genetically homogeneous group of obese children and adolescents.</...

hrp0094p2-310 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Incidental pituitary adenoma detection in two patients affected by Williams Syndrome: only a coincidence?

Ciancia Silvia , Madeo Simona F. , Cattini Umberto , Bruzzi Patrizia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo ,

Case reports: Patient 1 was diagnosed with Williams Syndrome (WS) when she was 11 years-old. She presented typical facial features, mental retardation (IQ 34) and chronic constipation. Pregnancy and neonatal period were unremarkable. Her growth has always been satisfying. No cardiac defects were detected at echocardiogram. Cerebral MRI showed enlarged pituitary (height of 9 mm) in the contest of which a mass with suprasellar extension was detected. Thyroid and adrenal...

hrp0097p1-237 | Diabetes and Insulin | ESPE2023

Effects of the COVID-19 pandemic on anthropometric data, glycemic control, and lipid levels in children and young people with type 1 diabetes: two years of follow-up

Iughetti Lorenzo , Candia Francesco , Stefanelli Francesca , Trevisani Viola , F. Madeo Simona , Bruzzi Patrizia , Predieri Barbara

Introduction: The beginning of the COVID-19 pandemic encouraged a sedentary lifestyle and “covibesity” was reported. Concerns for consequences on anthropometric data, glycemic control, and lipid profile in subjects with type 1 diabetes (T1D) were raised.Objectives: Longitudinal and observational study aimed to investigate the 2-years effects of the COVID-19 pandemic on BMI, glycemic control, and lipid profile...

hrp0097p1-330 | Growth and Syndromes | ESPE2023

A complex phenotype due to the overlap of two rare conditions: miller-mckusick-malvaux (3M) and chung-jansen syndrome

Chiarito Mariangela , Giordano Mara , Mellone Simona , Urbano Flavia , Felicia Faienza Maria

Introduction: I. was born at term by emergency caesarean delivery due to foetal distress, by unrelated parents. Birth weight: 2160 g (-3.18 SD), length 41.5 cm (-4.47 SD), head circumference 35.4 cm (0.57 SD). He was admitted in the neonatal intensive care unit (NICU) for the severe growth retardation associated to dysmorphic features. Neonatal screening, echocardiography and brain ultrasound normal. Karyotype: 46,XY.Case present...