This website provides information on patients with mutations in the TRHRgene, including clinical data, molecular data, management and research options.
The condition caused by mutations in the TRHRgene is characterized by isolated congenital central hypothyroidism.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the THRHgene.
Nitash Zwaveling-Soonawala, MD, PhD, Dept. Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Amsterdam, The Netherlands, n.zwaveling@amsterdamumc.nl
Paul van Trotsenburg, MD, PhD, Dept. Pediatric Endocrinology, Emma Children’s Hospital, Amsterdam UMC, Amsterdam, The Netherlands, a.s.vantrotsenburg@amsterdamumc.nl
TRHR