congenital hypothyroidism
Also written as: CH — congenital hypothyroidism
A condition present at birth where the thyroid gland produces insufficient thyroid hormone, requiring early detection and treatment.
Full Definition
Congenital hypothyroidism is a condition in which the thyroid gland fails to produce adequate thyroid hormone from birth, affecting approximately 1 in 3,000-4,000 newborns. It can result from thyroid dysgenesis (absent, ectopic, or underdeveloped thyroid gland), dyshormonogenesis (defects in hormone synthesis), or central causes (hypothalamic-pituitary dysfunction). If untreated, the condition leads to severe intellectual disability and growth retardation (cretinism). Most affected infants appear normal at birth due to maternal thyroid hormone transfer. Newborn screening programs detect the condition through elevated thyroid-stimulating hormone (TSH) levels on heel stick blood samples. Early treatment with levothyroxine replacement therapy, ideally begun within the first two weeks of life, prevents developmental delays and allows for normal cognitive development.
Usage
Usage note: Note that early treatment is crucial for preventing intellectual disability. TSH levels vary by testing method and timing.
In Context
- "The newborn screen was positive for congenital hypothyroidism with a TSH level of 85 mIU/L." — Pediatric endocrinology referral