Faculty

Ari J Wassner

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Central congenital hypothyroidism

Central congenital hypothyroidism (CCH) is caused by inborn disorders that impair the secretion or function of thyrotropin, leading to insufficient thyroid hormone production. Although it was thought in past decades to be very rare and generally mild, CCH has been revealed by recent studies to be both more common (up to 1 in 13,000 infants) and more severe than previously appreciated. Etiologies of CCH can be categorized broadly as defects of hypothalamic or pituitary development—which are usually associated with additional pituitary hormone deficits—or as isolated CCH. In recent years, the identification of new causative genes for isolated CCH has broadened our understanding of this disorder and has provided insights into the regulation of the hypothalamic-pituitary thyroid axis. Given the importance of thyroid hormone for normal neurodevelopment, prompt diagnosis and adequate treatment of CCH are vital for optimal outcome. However, diagnosis may be complicated by the design of newborn screening programs and/or their suboptimal sensitivity for detecting CCH. Developmental
outcomes generally are favorable for children with isolated CCH but are less certain for children with combined pituitary hormone deficiency.

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