ESPE Abstracts

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...

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...

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...

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...

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...

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</...

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...

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...

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...

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...