Allan-Herndon-Dudley-Syndrome in Childhood: Is there No Cure?

The syndrome, first described in 1944 by William Allan, Florence C. Dudley, and C. Nash Herndon, is a syndrome which results of disturbed formation of two thyroid hormone transporters, MCT8 and Oatp1c1. Nearly 320 individuals of 132 families have been described with MCT-8 deficiency. Since the first individual treatment attempt with LT4 and Propylthiouracil in 2008, the development of therapies for Allan-Herndon-Dudley syndrome (AHDS) has gained momentum in recent years. Treatment strategies range from symptomatic interventions including botulinum toxin injections, levodopa/carbidopa, assistive devices, functional therapies, rehabilitation to replacement therapies (LT3, LT4, DIPTA, TRIAC, TETRAC), and gene therapy. The diagnosis, treatment and cure of Allan-Herndon-Dudley syndrome in childhood remains challenging for the future.