This website provides information on patients with mutations in the IGSF1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the IGSF1 gene 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 IGSF1 gene.

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