Families

TSHBgene defects are a rare cause of central congenital 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.