ESPE Abstracts

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...

Background: Central hypothyroidism is rare in children. It is often part of multiple pituitary hormone deficiency but can occur in isolation. Isolated central hypothyroidism may be due to mutations in TSHB, TRHR or IGSF1, involved in TRH signalling. We present an adolescent with a novel truncating variant of IGSF1, resulting in delayed puberty, central hypothyroidism and macroorchidism.Case presentation: A 15-year-old ma...

Background: The thyroid gland is a common unintended target during and after cancer treatment in childhood cancer survivors. However, only a limited number of studies have assessed thyroid adverse events of newer or more selective anticancer drugs. The main objectives of this review are to provide an overview of thyroid disorders in children, treated with 131 I-metaiodobenzylguanidine (131 I-MIBG), tyrosine kinase inhibitors (TKIs) and immune checkpoint inhibi...

Background: The polyethylene glycol (PEG) method, which utilizes the addition of PEG to precipitate immunoglobulin fractions in order to measure free thyroid stimulating hormone (TSH), has been implemented as a tool for investigating incongruities in TSH measurement.Aim of the study: To investigate the practical application of PEG-TSH testing in pediatric scenarios with a discrepancy between elevated TSH and normal free ...

Introduction: Shear wave elastography (SWE) is an ultrasound diagnostic method used to measure tissue stiffness. Since the mechanical properties of tissue involved in the pathological process are changed, SWE might indicate regions of the examined tissue covered by the disease. It is well documented, that SWE helps differentiate benign and malignant nodules in thyroid gland in adults, however there are still few studies on application of SWE in thyroid diagnos...

Background: Monocarboxylate transporter 8 (MCT8) deficiency is a rare genetic disease that leads to severe global developmental delay. Thyroid hormone (TH) profile is characterized by high T3 and low T4 levels, with normal or elevated TSH. Recent studies have shown that the chemical chaperone phenylbutyrate (PB) restored mutant MCT8 function and increased TH content in a patient-derived cell model, making it a potential treatment for MCT8 deficiency.<p cla...