Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

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...

hrp0097rfc12.2 | Thyroid | ESPE2023

A novel frameshift mutation in Immunoglobulin Superfamily, Member 1 (IGSF1) causing central hypothyroidism, delayed puberty and GH deficiency

Blackburn James , Ahmed Shahida , van Meijgaarden Birgit , Gaston-Massuet Carles , Gevers Evelien

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...

hrp0097rfc12.3 | Thyroid | ESPE2023

Thyroid disorders in childhood cancer survivors treated with 131 I-MIBG, TKIs or immune checkpoint inhibitors: incidence, mechanisms and clinical management – systematic review

Allaert Sarah , Rochtus Anne , Decallonne Brigitte

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...

hrp0097rfc12.4 | Thyroid | ESPE2023

Polyethylene glycol thyroid stimulating hormone (PEG-TSH) in real-life: a practical tool for solving a biochemical dilemma

Zaitoon Hussein , Shefer Gabi , Segev-Becker Anat , Ayal Ori , Lebenthal Yael , Brener Avivit

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 ...

hrp0097rfc12.5 | Thyroid | ESPE2023

Application of Shear Wave Elastography (SWE) in the ultrasound evaluation of thyroid nodules in children and adolescents

Borysewicz-Sańczyk Hanna , Bossowski Filip , Sawicka Beata , Michalak Justyna , Dzięcioł Janusz , Bossowski Artur

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...

hrp0097rfc12.6 | Thyroid | ESPE2023

Phenylbutyrate treatment of three patients with Monocarboxylate Transporter 8 deficiency

Zung Amnon , Schreiner Felix , Vollbach Heike , Schweizer Ulrich , Banne Ehud , Braun Doreen

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...