Congratulations to UCD Associate Professor Carla Moran, who has co-authored European Thyroid Association Guidelines on Resistance to Thyroid Hormone, a group of rare conditions that affect thyroid hormone transport, metabolism and action. These are the first guidelines to be produced for these conditions and were co-authored by international experts in the field.
2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and actionAbstract
Impaired sensitivity to thyroid hormones encompasses disorders with defective transport of hormones into cells, reduced hormone metabolism, and resistance to hormone action. Mediated by heritable single-gene defects, these rare conditions exhibit different patterns of discordant thyroid function associated with multisystem phenotypes. In this context, challenges include ruling out other causes of biochemical discordance, making a diagnosis using clinical features together with the identification of pathogenic variants in causal genes, and managing these rare disorders with a limited evidence base. For each condition, the present guidelines aim to inform clinical 
practice by summarizing key clinical features and useful investigations, criteria for molecular genetic diagnosis, and pathways for management and therapy. Specific, key recommendations were developed by combining the best research evidence available with the knowledge and clinical experience of panel members, to achieve a consensus.
For the full guidelines, please see here:
https://pmc.ncbi.nlm.nih.gov/articles/PMC11301568/pdf/ETJ-24-0125.pdf
Recently, Dr Carla Moran was also awarded the prestigious 2024 American Thyroid Association Van Meter Award. See here to find out more.