2024 European thyroid association guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action

Persani L; Rodien P; Moran C; Visser WE; Groeneweg S; Peeters R; Refetoff S; Gurnell M; Beck-eccoz P; Chatterjee K

doi:10.1530/ey.22.3.8

3.8

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ESPE Yearbook of Paediatric Endocrinology (2025) 22 3.8 | DOI: 10.1530/ey.22.3.8

ESPEYB25 3. Thyroid Disorders of Thyroid Hormone Transport, Metabolism and Action (3 abstracts)

3.8. 2024 European thyroid association guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action

Persani L , Rodien P , Moran C , Visser WE , Groeneweg S , Peeters R , Refetoff S , Gurnell M , Beck-Peccoz P & Chatterjee K

Eur Thyroid J. 2024 Aug 3;13(4):e240125. doi: 10.1530/ETJ-24-0125. PMID: 38963712

Brief Summary: This guideline from the European Thyroid Association (ETA) provides comprehensive, evidence-based recommendations for the diagnosis and management of genetic defects in thyroid hormone transport, metabolism, and action. Developed through systematic literature review and expert consensus, it covers the differential diagnosis of elevated thyroid hormone levels with non-suppressed TSH, resistance to thyroid hormone β and α (RTHβ, RTHα), MCT8 deficiency, and SECISBP2-related thyroid hormone metabolism disorders. Key updates include diagnostic flowcharts, genotype–phenotype correlations, and treatment strategies, notably the use of TRIAC in MCT8 deficiency. The guideline aims to standardize care and improve outcomes in these rare conditions.

This guideline is an essential resource for pediatric endocrinologists managing children with unexplained thyroid hormone abnormalities.