Families

IGSF1deficiency is the most common genetic form of congenital central hypothyroidism. Hypothyroidism refers to insufficient production of thyroid hormone. In most patients with hypothyroidism the problem is in the thyroid gland itself, so-called primary hypothyroidism. Central hypothyroidism is a rare form of hypothyroidism where the pituitary gland in the brain (the “central” controller of the thyroid gland) is not able to sufficiently stimulate the thyroid gland.