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

hrp0097fc12.1 | Thyroid | ESPE2023

Graves’ disease – are we just delaying the inevitable?

Stevens Chloe , Langham Shirley , Amin Rakesh , T Dattani Mehul , E Brain Caroline , J Peters Catherine

Background: The incidence of Graves’ disease in patients aged <15 years is estimated at 0.9 per 100,000. Parental anxiety around definitive treatment, timing of this around schooling and clinician confidence in long-term medical treatment often results in prolonged medical management. This audit aimed to assess the rates of remission, timing of definitive treatment and long-term medical management in children managed for Graves’ at a UK tertiary...

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...

hrp0097fc12.3 | Thyroid | ESPE2023

Hypothyroidism due to IYD bi-allelic pathogenic variants: clinical description of eight patients

Boros Emese , Vilain Catheline , Driessens Natacha , Heinrichs Claudine , Brachet Cécile

Aim: To describe the phenotypes of patients harboring bi-allelic pathogenic variants in IYD gene followed in our Paediatric Endocrinology Clinic.Results: Eight patients (from 4 consanguineous families of Moroccan origin) were homozygous carriers for a pathogenic variant in IYD gene. Their clinical presentation is described in table. All patients presented with a large goiter and severe hypothyroidism wi...

hrp0097fc12.4 | Thyroid | ESPE2023

Thyroid hormone resistance due to THRB gene mutations: neonatal manifestations in two cases

Labey Séverine , Savagner Frédérique , Rideau Aline , Sertedaki Amalia , Dolianiti Maria , Sakka Sofia , Siahanidou Sultana , Léger Juliane , Carel Jean-Claude , Kanaka-Gantenbein Christina

Introduction: Thyroid hormone resistance (THR) is a rare disease (&ap; 1/50000) mainly due to thyroid hormone receptor beta gene (THRB) mutations, generally identified in late childhood and adulthood. We report 2 atypical cases of neonatal diagnosis of THR.Case 1: The newborn presented with neonatal respiratory distress due to a voluminous compressive goiter, requiring invasive ventilation. Thyroid function test...

hrp0097fc12.5 | Thyroid | ESPE2023

Teprotumumab in an adolescent with severe corticosteroid-resistant Graves ophthalmopathy: success but unexpected neurological manifestations

Atger-Lallier Laura , Elmaleh Monique , Pedron Beatrice , Storey Caroline , De Filippo Gianpaolo , Martinerie Laetitia , Leger Juliane , Carel Jean-Claude

Moderate to severe Graves ophthalmopathy (GO) is rare in children and most patients have mild GO. This complex inflammatory autoimmune disorder affecting the orbital fat and muscles is linked to circulating TSH receptor antibodies and involves the insulin-like growth factor-I receptor (IGF-IR) on orbital fibroblasts. Severe GO features include proptosis, diplopia and vision loss. Intravenous glucocorticoid pulse therapy is the first line medical treatment for moderate to sever...

hrp0097fc12.6 | Thyroid | ESPE2023

TSH screening in premature newborns: a critical appraisal of the value of a second sample.

Boros Emese , Van Vliet Guy , Heinrichs Claudine , Ulgiati Fiorenza , Vicinanza Alfredo , Marcelis Lionel , Brachet Cécile

Introduction: Consensus guidelines (2021) state that a second dry blood spot (DBS) should be considered for newborn screening (NBS) in preterms (delayed TSH rise).Objective: To evaluate the diagnostic yield of an NBS strategy including a second DBS at 14 days in preterms.Material and Methods: Retrospective study of 2 cohorts. Cohort 1: live births <37 weeks of gestational age (G...