This website provides information on patients with mutations in the IGSF1gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the IGSF1gene is a multisystem disorder characterized by congenital central hypothyroidism and macroorchidism.
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 IGSF1gene.
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
IGSF1