hrp0084p3-1015 | Growth | ESPE2015

Reversible GH Excess in Two Girls with Neurofibromatosis Type 1 and Optic Pathway Glioma

Sani Ilaria , Bruzzi Patrizia , Albanese Assunta

Background: 12 cases of neurofibromatosis type 1 (NF-1) children with optic pathway glioma (OPG) and GH excess (GHE) are reported to-date. The aetiology of GHE is unknown. We describe two NF-1 girls and OPG with reversible GHE. The diagnosis of GHE was established from auxological data, high IGF1 and lack of GH suppression during an oral glucose tolerance test (OGTT). Our aim is to increase awareness of GHE in NF-1 children with OPG and help its management.<p class="abstex...

hrp0086rfc5.5 | Management of Disorders of Insulin Secretion | ESPE2016

The Efficacy of Insulin Degludec in Children and Adolescents with Type 1 Diabetes

Bruzzi Patrizia , Maltoni Giulio , Predieri Barbara , Zucchini Stefano , Iughetti Lorenzo

Background: Insulin degludec (IDeg; Tresiba®) is a novel basal insulin with an ultra-long, flat and stable action profile. In adults, it provides a more consistent glucose-lowering effect and lower rates of hypoglycaemia than glargine (IGlar). Data on children and adolescents are scarce.Objective and hypotheses: To assess efficacy of IDeg among children and adolescents affected by type 1 diabetes (T1DM) previously on IGlar.Met...

hrp0084fc12.1 | Obesity - Clinical | ESPE2015

Evaluation of Cardiovascular Risk in Childhood: Data from a Survey of Dyslipidaemic Children

Bruzzi Patrizia , Colombini Giulia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo

Background: Dyslipidaemia is a well-known risk factor in developing cardiovascular disease (CVD) already in childhood.Objective and hypotheses: To investigate the clustering of cardiovascular risk-factors (anthropometric parameters, blood pressure and metabolic abnormalities) in different type of dyslipidaemia in children and adolescents.Method: All the subjects aging 2–18 years referred for dyslipidaemia to our endocrine outp...

hrp0092rfc3.5 | Multi-system Endocrine Disorders | ESPE2019

Evaluation of Endothelial Function in Childhood Standard Risk Acute Lymphoblastic Leukemia Survivors: Role of Subclinical Markers and Identification of Preventable Factors

Bruzzi Patrizia , Bigi Elena , Felici Francesca , Righi Beatrice , Cano Carmen , Cellini Monica , Predieri Barbara , Iughetti Lorenzo

Background: Adult survivors from childhood malignancy are prone to accelerated atherogenesis and cardiovascular (CV) complications. In this population reliable tools are needed to detect preclinical onset of CV disease.Aim: To assess subclinical markers of inflammation and endothelial dysfunction in young survivors from acute lymphoblastic leukemia (ALL) treated with chemotherapy without cranial irradiation (AIEOP 2000 a...

hrp0089p2-p032 | Adrenals and HPA Axis P2 | ESPE2018

Adrenal Hypoplasia Seemingly First as a Primary Hypoaldosteronism

Iughetti Lorenzo , Lucaccioni Laura , Bruzzi Patrizia , Ciancia Silvia , Predieri Barbara , Roucher-Boulez Florence

Background: X-linked Congenital Adrenal Hypoplasia (AHC) is a rare cause of primary adrenal insufficiency due to mutations in NR0B1 gene, causing a loss of function of the nuclear receptor protein DAX-1. Adrenal insufficiency usually presents in the first two months of life, but sometimes can appear later in childhood. Hypogonadotropic Hypogonadism is often associated later in life and all patients develop azoospermia. We describe an unusual onset of AHC started with ...

hrp0089p2-p052 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Evaluation of Bone Mineral Density in a Cohort of Children with Growth Hormone Deficiency

Cenciarelli Valentina , Bruzzi Patrizia , Predieri Barbara , Cerbone Caterina , Madeo Simona , Leo Francesco

Background: Growth Hormone (GH) plays an important role in linear growth and in bone turnover during childhood. GH deficiency (GHD) may cause secondary osteoporosis associated to low bone mineral density (BMD), impairment of bone turnover and increased fracture rate. The effects of treatment with recombinant human Growth Hormone (rhGH) on bone metabolism are controversial. We aimed to assess BMD using dual energy x-ray absorptiometry (DEXA) among a cohort of children with GHD ...

hrp0089p3-p157 | Fat, Metabolism and Obesity P3 | ESPE2018

A Not So ‘Simple Obesity’

Poluzzi Silvia , Madeo Simona Filomena , Rossi Gloria , Bruzzi Patrizia , Stanghellini Ilaria , Calabrese Olga , Iughetti Lorenzo

Childhood obesity is the consequence of a complex interaction among several factors: environment, genetics, endocrine disorders, medications and other conditions. Genetic factors are described to be causal factors in up to 30–50% of overweight conditions. Although polygenetic obesity is by far the most commonly observed, several obesity related syndromes associated with single gene defects have been identified.Case presentation: A three year old gir...

hrp0086p2-p263 | Diabetes P2 | ESPE2016

The Role of 24-h Ambulatory Blood Pressure Monitoring in Children and Adolescents with Type 1 Diabetes: Early Experience of a Single Centre

Predieri Barbara , Bruzzi Patrizia , Bianco Valentina , Spaggiari Valentina , Mazzoni Silvia , Cattelani Chiara , Iughetti Lorenzo

Background: Ambulatory blood pressure monitoring (ABPM) permits the observation of blood pressure (BP) in a nonmedical environment. In adults, ABPM is better related to renal damage and cardiovascular morbidity than office BP readings. In early stages of type 1 diabetes (T1DM), the role of ABPM is still controversial.Objective and hypotheses: To detect blood pressure abnormalities using 24-h ABPM in children and adolescents with T1DM and to determine the...

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...

hrp0086p1-p754 | Pituitary and Neuroendocrinology P1 | ESPE2016

The Metabolic Negative Effect of Gonadotropin-Releasing Hormone Agonist Therapy in Childhood: Is it Short-Term and Reversible?

Iughetti Lorenzo , Bruzzi Patrizia , Bigi Elena , Valeri Lara , Manzotti Elena , Lucaccioni Laura , Predieri Barbara

Background: Data on metabolic effects of gonadotropin-releasing hormone agonist (GnRHa) therapy are still controversial.Objective and hypotheses: To longitudinally evaluate the effect of GnRHa therapy on BMI, glycaemic metabolism and lipid profile in children affected by idiopathic central precocious puberty (CPP).Method: This longitudinal retrospective study included data from 42 children (7.70±0.80 years, 2 males) affected b...