Central hypothyroidism can be best defined as lower than desirable thyroid hormone production and secretion because of insufficient stimulation of a normal thyroid gland by a defective pituitary or hypothalamus, resulting in a too low plasma or serum (free) thyroxine (FT4) concentration accompanied by a more or less normal thyrotropin (TSH) concentration. Central hypothyroidism can occur isolated or as part of multiple pituitary hormone deficiency and can be a congenital or acquired condition. Because basal TSH is generally unusable as diagnostic test for central hypothyroidism, its diagnosis heavily relies on the height of the FT4 concentration, making especially isolated central hypothyroidism a challenging diagnosis. In the last six to seven years, three new genetic causes of isolated central hypothyroidism - mutations in the IGSF1, TBL1X and IRS4 genes - have been added to the two well-known causes (mutations in TRHR and TSHB). This speaker will present an overview of the current knowledge about diagnosing, and the genetic causes of (isolated) central hypothyroidism.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology