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ea0092op-06-02 | Oral Session 6: Pregnancy | ETA2023

Optimizing the dutch newborn screening for congenital hyothyroidism by using amino acids and acylcarnitines via a machine learning based approach

Jansen Heleen , van Haeringen Marije , Bouva Marelle , den Elzen Wendy , Bruinstroop Eveline , van der Ploeg Catharina , van Trotsenburg Paul , Zwaveling-Soonawala Nitash , Heijboer Annemieke , Bosch Annet , de Jonge Robert , Hoogendoorn Mark , Boelen Anita

Objectives: Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by disturbances at the thyroid level (thyroidal CH, CH-T). Less frequently, but equally important, CH can be the result of hypothalamic/pituitary dysfunction (central CH, CH-C). Most CH newborn screening (NBS) programs are based on the measurement of thyroid-stimulating hormone (TSH), thereby only detecting CH-T. The Dutch NBS detects CH by measuring total T4 concentrations in...

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ea0099rc6.1 | Rapid Communications 6: Thyroid | Part I | ECE2024

Age-specific reference intervals for TSH and FT4 to optimize diagnosis of thyroid disease

Jansen Heleen , Dirks Niek , Hillebrand Jacquelien , Ten Boekel Edwin , Brinkman Jacoline , Buijs Madelon , Demir Ayse , Dijkstra Ineke , Endenburg Silvia , Engbers Paula , Gootjes Jeannette , Janssen Marcel , Kamphuis Stephan , Kniest-de Jong Wilhelmina , Kruit Adrian , Michielsen Etienne , Wolthuis Albert , van Trotsenburg A.S. Paul , den Heijer Martin , Bruinstroop Eveline , Boelen Anita , Heijboer Annemieke C , den Elzen Wendy

Introduction: Thyroid disorders are generally diagnosed based on thyroid stimulating hormone (TSH) outside the reference interval (RI), and subsequent free thyroxine (FT4) concentrations. Most laboratories do not provide age-specific RIs for TSH and FT4 beyond childhood, although it is known that TSH concentrations vary with age which may be important to take into account. Therefore, we aimed to establish age-specific RIs for TSH and FT4 throughout life using an indirect metho...

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Endocrine Abstracts

Optimizing the dutch newborn screening for congenital hyothyroidism by using amino acids and acylcarnitines via a machine learning based approach

Age-specific reference intervals for TSH and FT4 to optimize diagnosis of thyroid disease

BiosciAbstracts