hrp0086p2-p933 | Thyroid P2 | ESPE2016

Clinical Case of Acute Liver Injury in Pediatric Patient with Autoimmune Hyperthyroidism

Caiulo Silvana , Vigone Maria Cristina , Peroni Elena , di Frenna Marianna , Saracco Luca , Memoli Massimo , Barera Graziano , Weber Giovanna

Background: Autoimmune hepatitis (AIH) and methimazole (MMI)-induced toxic hepatitis are both rare diseases in pediatric age.Case presentation: We present the case of a 15-year-old girl affected by idiopathic arthritis and autoimmune thyroiditis. The autoimmune thyroiditis was diagnosed at 13 years of age. At 15 years old she developed hyperthyroidism (TSH <0.01 mcU/ml, FT4 2.3 ng/dl, FT3 8.4 pg/ml, TRAb 18 IU/l) and was treated with MMI (0.28 mg/kg ...

hrp0082fc5.5 | Neuroendocrinology | ESPE2014

Characterization of IGFI Receptor Expression and Localization in Paediatric Gliomas Upon Diagnosis According to WHO 2007 Grading

Clement Florencia , Venara Marcela , Maglio Silvana , Martin Ayelen , Matho Cecilia , Petre Cesar , Lombardi Mercedes Garcia , Bergada Ignacio , Pennisi Patricia

Background: Gliomas are the most common subgroup of CNS tumours in children. Histologic grading is a means of predicting the biological behavior of these tumours and survival is strongly correlated with tumour gradation. The IGF system of ligands and receptors are known to play an important role in both normal and neoplastic growth. Recently, nuclear translocation of the type 1 IGF1R has been demonstrated in tumour tissues. Although the IGF1R expression has been described in C...

hrp0082p2-d1-587 | Thyroid | ESPE2014

Mutation of the TSH Receptor Gene: a Longitudinal Study in Children with Non-Autoimmune Subclinical Hypothyroidism

Vigone Maria Cristina , Sonnino Micol , Guizzardi Fabiana , Frenna Marianna Di , Caiulo Silvana , Gelmini Giulia , Persani Luca , Weber Giovanna

Background: Neonatal screening strategies revealed an increase in hypothyroidism associated with an in-situ thyroid gland due to TSH receptor (TSHR) mutations. While there are many genetic and functional studies regarding TSHR mutations, few are found concerning the clinical course and long-term outcome of TSH resistance involving the pediatric population.Objective and hypotheses: To determine the impact of TSHR mutations on clinical course, biochemical ...

hrp0097p2-10 | Growth and Syndromes | ESPE2023

Overgrowth in a 12-years-old boy with distal chromosome 16 duplication syndrome

Abbate Tiziana , Aversa Tommaso , Briuglia Silvana , Pepe Giorgia , Li Pomi Alessandra , Moschella Antonino , Paola Capra Anna , Wasniewska Malgorzata , Corica Domenico

Background: Distal chromosome 16 duplication syndrome, also known as 16q partial trisomy, is a very rare genetic disorder. Smaller chromosomal copy number variants (CNVs) within the 16q region create partial trisomies, which occur less frequently than full trisomy 16q. Trisomy 16q is generally associated with a multisystemic phenotype including intrauterine growth restriction (IUGR), brain and cardiac defects, intellectual disability and an increased risk of b...

hrp0095p1-130 | Growth and Syndromes | ESPE2022

Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome associated with a new COL1A1 variant (c.3235G>A, p.Gly1079Ser) in a girl with severe short stature and neuroblastoma

Letteria Anna Morabito , Elsa Maria Allegri Anna , Paola Capra Anna , Corica Domenico , Capasso Mario , Capra Valeria , Garaventa Alberto , Maghnie Mohamad , Briuglia Silvana , Gabriela Wasniewska Malgorzata

Background: Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome is a rare and recently described disorder of connective tissue, characterized by mutation of COL1A1 (17q21.33) or COL1A2 (7q21.3) genes, involved in alpha-1 and alpha-2 chains of type 1 collagen synthesis. Patients with OI/EDS overlap syndrome could show a phenotype characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, sho...

hrp0092p1-420 | Thyroid (2) | ESPE2019

The Genetic and Clinical Characteristic of Pediatric Patients with Congenital Hypothyroidism Gland In-Situ

Cristina Vigone Maria , Saracco Luca , Vincenzi Gaia , Caiulo Silvana , Di Frenna Marianna , Persani Luca , De Filippis Tiziana , Guizzardi Fabiana , Grazia Patricelli Maria , Spiga Ivana , Weber Giovanna

Introduction: The underlying genetic causes of congenital hypothyroidism with gland in-situ (CH GIS) and hyperthyrotropinemia (HT) remain largely a mystery. Thanks to NGS, genetic screening is now finding many novel variants. The challenge is to correctly identify which genes and which variants lead to CH and which cause only a transient HT.Objectives: Our objectives were to evaluate the presence of variants in 14 candid...

hrp0092p1-423 | Thyroid (2) | ESPE2019

Congenital Hypothyroidism (CH) Detected by the Second Newborn Screening in Lombardia Region: Incidence and Evolution of CH

Caiulo Silvana , Cristina Vigone Maria , Di Frenna Marianna , De Angelis Simona , Rotondi Daniela , Vincenzi Gaia , Lucchi Simona , Alberti Luisella , Barera Graziano , Corbetta Carlo , Olivieri Antonella , Weber Giovanna

Introduction: Although there are several studies on the incidence of congenital hypothyroidism (CH), there are few data showing incidence and evolution of CH detected by the second newborn screening (NBS).Objectives: To assess the incidence of CH in Lombardia region and the percentage of patients identified by the 2ndNBS. To describe the clinical features and evolution of CH patients detected by the 2nd</...

hrp0089fc3.5 | Diabetes and Insulin 1 | ESPE2018

Genotype and Phenotype Correlation in Syndromic Forms of Hyperinsulinaemic Hypoglycaemia – a 10-year follow-up Study in a Tertiary Centre

Dastamani Antonia , Kostopoulou Eirini , Clements Emma , Caiulo Silvana , Shanmugananda Prateek , Morgan Kate , Gilbert Clare , Dattani Mehul , Flanagan Sarah , Ellard Sian , Hurst Jane , Shah Pratik

Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in infancy. It is characterised by hypoketotic, hypofattyacidaemic and hyperinsulinaemic hypoglycaemia. The molecular basis of HH includes defects in pathways that regulate insulin release; to date, 12 genes have been associated with monogenic forms of HH (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1, PMM2). However, no genetic aetiology has been...

hrp0089p1-p249 | Thyroid P1 | ESPE2018

Neonatal Screening for Congenital Hypothyroidism: Age-dependent Reference Intervals for Dried Blood Spot TSH in the Neonatal Period

Corbetta Carlo , Angelis Simona De , Rotondi Daniela , Alberti Luisella , Cassini Pamela , Mariani Tiziana , Caiulo Silvana , Vigone Maria Cristina , Weber Giovanna , Olivieri Antonella

Background: National and international guidelines recommend thyrotropin (TSH) determination as the most sensitive test for detecting primary congenital hypothyroidism (CH) in newborn screening programs. A strategy of a second screening at 2 weeks of age, or 2 weeks after the first screening was carried out, is also recommended in preterm, LBW and VLBW neonates, twins, neonates admitted in NICU, and babies with specimen collection within the first 24 hours of life [1–3]. H...

hrp0086p2-p932 | Thyroid P2 | ESPE2016

Multinodular Goiter and Differentiated Thyroid Cancer in Pediatrics

Papendieck Patricia , Venara Marcela , Elias Eugenia , Cozzani Hugo , Mateos Fernanda , Maglio Silvana , de Lujan Calcagno Maria , Gruneiro-Papendieck Laura , Bergada Ignacio , Chiesa Ana

Background: In a recent report we have identified multinodular goiter (MNG) as a condition with an increased risk for thyroid malignancy in children and adolescents.Objective and hypotheses: To report the prevalence and characterization of a prospectively and uniformly followed cohort of pediatric patients with MNG and to retrospectively analyze differences between benign and malignant MNG before surgery in order to identify malignancy predictors.<p ...