ESPE Abstracts

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...

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 ...

A was born at 38+4 weeks by eutocic delivery, with adequate auxological parameters and unremarkable perinatal history. She was admitted to our center at 15 days of life after the second screening for congenital hypothyroidism (CH) resulted positive (bTSH 48 mU/L); the first test was negative. Serum blood tests confirmed the diagnosis of CH (TSH 157 mU/L, FT4 0.96 ng/dl, FT3 8.44 pg/ml, negative thyroid autoimmunity). Thyroid ultrasound showed a gland of normal size. Therefore,...

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...

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...

The overall remission rate after 2 years of anti-thyroid drug treatment (ATD) in pediatric patients with autoimmune hyperthyroidism (AI) is 20-30%. The European Thyroid Association (ETA) recommends longer duration of ATD therapy in patients who have low likelihood of remission. Older age, female sex, ethnicity, small goiter, mild biochemical derangement at diagnosis, lower TSH receptor antibodies (TRAb) titer, history of other autoimmune conditions, duration of ATD treatment, ...

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...