hrp0082p1-d2-24 | Autoimmune Endocrine Disease | ESPE2014

Final Height and BMI in English and Italian Adult Survivors of Childhood Acute Lymphoblastic Leukemia Treated without Cranial Radiotherapy

Bruzzi Patrizia , Albanese Assunta , Nussey Stephen , Predieri Barbara , Iughetti Lorenzo , Leiper Alison

Background: Adult survivors of childhood Acute Lymphoblastic Leukemia (ALL) treated with protocols including cranial radiotherapy (CRT) demonstrate a persistent increased BMI and a reduced final height (FH).Objective and hypotheses: We investigated the effect of chemotherapy alone (CT) on BMI and FH in an international cohort of childhood ALL survivors.Method: English patients (61% female) treated on UKALL XI protocol without CRT a...

hrp0082p1-d3-169 | Growth (2) | ESPE2014

Recombinant Human GH Therapy Allows to Reach a Normal Final Adult Height in Coeliac Children with GH Deficiency due to Hypophysistis

Iughetti Lorenzo , Lucaccioni Laura , Bruzzi Patrizia , Di Biase Anna Rita , De Bellis Anna Maira , Predieri Barbara

Background: Coeliac disease (CD) can be associated with impaired growth in children after a prolonged period of Gluten-free diet (GFD). A small percentage of CD patients does not show catch-up growth during GFD because of GH secretion deficiency (GHD) that could be associated with antipituitary autoantibodies (APA).Objective and hypotheses: This study aims to evaluate the efficacy of recombinant human GH (rhGH) therapy on final adult height in children w...

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...

hrp0084p1-26 | Diabetes | ESPE2015

Human Placenta-Derived Mesenchymal Stem Cells: A Novel Protocol for Pancreatic Differentiation

Patianna Viviana Dora , Okere Bernard , Predieri Barbara , Bruzzi Patrizia , Iughetti Lorenzo

Background: Placenta tissue hold great promise as a source of cells for regenerative medicine due to its plasticity and easy availability. Amniotic Mesenchymal Stem Cells (AMSC) represent a potentially unlimited source of functional pancreatic endocrine lineage cells, used to replenish the islet mass in diabetic patients.Objective and hypotheses: The aim of our study is to culture AMSC in serum-free condition preserving their phenotypic traits. These cul...

hrp0084p3-844 | Fat | ESPE2015

The Risk of Metabolic Syndrome among Dyslipidemic Children and Adolescents

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

Background: Lipid assessment is emerging as a useful and easy detectable tool to define the overall cardiovascular risk in children and adolescents. Nevertheless, no all dyslipidemic patients suffer the same cardiometabolic consequences.Objective and hypotheses: To compare anthropometric, biochemical and blood pressure variables among dyslipidemic children and adolescents according to the presence of metabolic syndrome (MetS).Metho...

hrp0084p3-919 | GH & 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...

hrp0084p3-1144 | Puberty | ESPE2015

Central Precocious Puberty in Cerebral Palsy

Bruzzi Patrizia , Messina Maria Francesca , Bartoli Alessandra , Lucaccioni Laura , Predieri Barbara , De Luca Filippo , Iughetti Lorenzo

Background: Children affected by cerebral palsy (CP) could experience central precocious puberty (CPP) 20 times more than general population. Nevertheless, the treatment is challenging.Objective and hypotheses: To compare CPP features and the effects of gonadotropin-releasing hormone agonist therapy (GnRHa) in children with CP and in controls.Method: The study involved 16 children with CPP and CP (median age (range) at diagnosis of...

hrp0094fc10.1 | Thyroid | ESPE2021

Natural history of congenital hypothyroidism in the last two decades: what is changing? Experience of a single tertiary Italian paediatric centre.

Bruzzi Patrizia , Donini Valentina , Ciancia Silvia , Lucaccioni Laura , Predieri Barbara , Iughetti Lorenzo ,

Background and Aim: Congenital hypothyroidism (CH) is a well-known condition. Nevertheless, recent questions in clinical practice, especially in neonatal intensive care setting, prompted us to review the natural history of CH in our cohort.Methods: This is a retrospective, observational study collecting anamnestic, anthropometric (height SDS, BMI SDS), diagnostic (TSH, fT4, thyroid ultrasound) and therapeutic data (dose ...

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...