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...

hrp0094p2-477 | Thyroid | ESPE2021

L-T4 absorption test in 14-year-old patient with severe refractory hypothyroidism after total thyroidectomy

Vincenzi Gaia , Di Stefano Marina , Abbate Marco , Tarantola Giulia , Barera Graziano , Vigone Maria Cristina

Hypothyroid patients post-thyroidectomy require 1.6-1.8 mg/kg/die of Levothyroxine (L-T4). A persistent TSH level above the upper limit despite a daily dose >1.9 mg/kg/die is defined as “refractory” hypothyroidism in adults. Malabsorption and “pseudo-malabsorption” need to be investigated in case of therapeutic failure. L-T4 absorption test (LT4AT) is useful in distinguishing these two conditions but it has only been described in adult age. We ...

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...

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...

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...