hrp0095p1-536 | Multisystem Endocrine Disorders | ESPE2022

A case of septo-optic dysplasia and congenital hypothyroidism in a patient affected by Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome

Vincenzi Gaia , Cavallini Anna , Abbate Marco , Romaniello Romina , Pozzobon Gabriella , Cristina Vigone Maria

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

hrp0095p1-200 | Thyroid | ESPE2022

Severe and Non Severe Forms of Autoimmune Hypothyroidism in Childhood: A Retrospective Analysis of 256 Cases

Maltoni Giulio , Vincenzi Gaia , Scozzarella Andrea , Tarantola Giulia , Cristina Vigone Maria , Cassio Alessandra

Introduction: Hashimoto’s thyroiditis (HT) is one of the most common autoimmune diseases in childhood. Despite its frequency, there are still controversies concerning the spontaneous evolution and presentation in childhood. Aim and methods: this is a retrospective study aiming to evaluate clinical and hormonal features at diagnosis and auxological parameters after 3 years in subjects with Severe Autoimmune Hypothyroidism (SAH). We defined severe hypothyr...

hrp0095p1-395 | Thyroid | ESPE2022

Liquid formulations of Levothyroxine with and without ethanol in the treatment of congenital hypothyroidism: similar TSH and fT4 values in the first six months of follow up

Tarantola Giulia , Vincenzi Gaia , Girolamo Laura , Abbate Marco , Santagiuliana Cristina , Priolo Alessio , Mora Stefano , Cristina Vigone Maria

Background: There are two liquid formulations of Levothyroxine currently in use in Italy: one containing ethanol (Tirosint®) and the other ethanol-free (Tifactor®). The aim of our study is to compare the two liquid formulations of Levothyroxine in the first six months of treatment in newborns affected by Congenital Hypothyroidism (CH).Methods: We retrospectively enrolled 156 patients treated with the ethanol-cont...

hrp0097rfc12.1 | Thyroid | ESPE2023

Macro-TSH IgG complex in a case of Congenital Hypothyroidism (CH).

Ippolito Alessia , Vincenzi Gaia , Abbate Marco , Campi Irene , Del Giacco Luisa , Pontillo Marina , Persani Luca , Barera Graziano , Cristina Vigone Maria

We present the case of a five-day female admitted to our Paediatric Unit due to TSH elevation (bTSH 303 mIU/L) on routine neonatal screening for congenital hypothyroidism (CH). The patient was born at 38 weeks’ gestation by c-section presenting with adequate auxological parameters. Her mother suffered from Hashimoto’s disease, already diagnosed before pregnancy, and requiring Levo-thyroxine therapy (L-T4). Blood tests performed at five days of life revealed the pre...

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</...

hrp0097p1-186 | Thyroid | ESPE2023

Comparison of clinical features, therapy, and disease evolution in a population of children and adolescents with Graves' disease and Type 1 Diabetes compared to Graves' disease alone.

Bernardini Luca , Maltoni Giulio , Cristina Vigone Maria , Franceschi Roberto , Cardinale Giuliana , Mameli Chiara , Piscopo Alessia , Roppolo Rosalia , Savastio Silvia , Ortolani Federica , Randazzo Emioli , Giulia Lambertini Anna , Cassio Alessandra

Introduction: About 25% of children and adolescents with Type 1 Diabetes (T1D) have one or more associated autoimmune conditions. Although Graves' disease (GD) rarely occurs, considering the potential severity of manifestations, an early diagnosis and appropriate treatment are essential. The first line treatment is methimazole, whose use is not free from side effects; therefore, it is important to start with the most appropriate dosage.<p class="abste...

hrp0097p1-188 | Thyroid | ESPE2023

DICER1 Syndrome and pediatric thyroid carcinoma

Abbate Marco , Vincenzi Gaia , Maggiore Riccardo , Schiavo Lena Marco , Tarantola Giulia , Teresa Petralia Ilenia , Matilde Tura Adele , Grazia Patricelli Maria , Barera Graziano , Cristina Vigone Maria

DICER1, a gene located on chromosome 14q32.13, encodes a protein ribonuclease (RNase) IIIb that plays a central regulatory role in miRNA processing. DICER1 syndrome has an autosomal dominant inheritance and predisposes affected individuals to a wide variety of tumors, both benign and malignant. We describe the case of a 6-year-old girl, carrier of a DICER1 germline mutation, and affected by a differentiated thyroid carcinoma. At the age of 6 a first thyroid ultrasound revealed...

hrp0082p2-d1-593 | Thyroid | ESPE2014

Incidence of Thyroid Nodules in Children Affected by Hashimoto’s Thyroiditis: a 12-Year Survey of 567 Children

Longhi Silvia , Aversa Tommaso , Bal Milva , Cantasano Antonella , Cappa Marco , Cassio Alessandra , Corrias Andrea , D'Antonio Valeria , De Luca Filippo , Di Mase Raffaella , Gastaldi Roberto , Guzzetti Chiara , Loche Sandro , Salerno Mariacarolina , Maria Tronconi Giulia , Cristina Vigone Maria , Weber Giovanna , Radetti Giorgio

Background: Hashimoto’s thyroiditis (HT) has been linked to papillary cancer in adults but not in children and adolescents. Moreover, there is no agreement on the more appropriate frequency of thyroid ultrasound (TS) in the follow-up of children with HT.Objective and hypotheses: The aim of the study was to investigate the incidence of thyroid nodules and of thyroid cancer in a large group of children and adolescents (567) with HT followed-up for a m...

hrp0097fc12.2 | Thyroid | ESPE2023

Thyroid function analysis in 48 patients affected by severe combined immunodeficiency caused by adenosine deaminase deficiency

Tarantola Giulia , Pajno Roberta , Vincenzi Gaia , Barzaghi Federica , Migliavacca Maddalena , Abbate Marco , Sophia Fratini Elena , Teresa Petralia Ilenia , Ippolito Alessia , Pia Cicalese Maria , Cristina Vigone Maria , Barera Graziano , Aiuti Alessandro

Background: Adenosine deaminase (ADA) deficiency is a systemic metabolic disease that primarily affects the immune system and lymphocyte development, causing a severe combined immunodeficiency (ADA-SCID). However, the accumulation of toxic metabolites occurs in other organs and systems. Since most ADA-SCID patients undergo definitive treatment with Gene Therapy (GT) or allogeneic haematopoietic stem cell transplantation (HSCT), preceded by conditioning (either...