THRA deficiency and Allan-Herndon-Dudley-Syndrome: Defects of local TH function during human brain development

Prof. Dr. med. Heiko Krude  &  Prof. Dr. med. Markus Schülke-Gerstenfeld

Local TH action in the brain can be disturbed by mutations in either local transport (MCT8) or receptor proteins (THRA). This project strives to increase the diagnostic yield for both defects by using the serum fT3/fT4-ratio as a more sophisticated screening parameter. Furthermore, we will explore how both genes are regulated on the genomic level. This will enable us to identify i) patients with non-coding mutations, and ii) patients with milder phenotypes presenting only with a subset of symptoms seen in “classic” MCT8 and THRA deficiencies.