We are pleased to share a new publication in Human Molecular Genetics that sheds light on why thyroid disorders are so common in children with Down syndrome. This study was conducted in close collaboration with dr. Peter Lauffer and Prof. dr. A.S. Paul van Trotsenburg of the Emma Children’s Hospital, Amsterdam UMC.

By studying donated fetal thyroid tissue, the research team discovered that thyroid development in Down syndrome frequently follows a slightly altered trajectory. The structural “building blocks” of the gland appear smaller and more irregular, and multiple genes essential for thyroid growth and hormone production show reduced activity.

These findings are significant for two reasons. First, they support the concept that thyroid dysfunction in Down syndrome may originate very early in embryonic development, rather than arising only postnatally. Second, they provide clearer insight into the biological pathways involved, offering important leads for future mechanistic and clinical research.

This work was made possible through the Dutch Fetal Biobank. Dr. de Bakker and her collaborators express their deepest gratitude to the parents who chose to donate tissue to science. Their generosity enables discoveries that directly contribute to improved understanding and care for future generations.