congenital hypothyroidism
A condition present at birth where the thyroid gland does not produce sufficient thyroid hormone for normal development.
Full Definition
A endocrine disorder present from birth characterized by insufficient production of thyroid hormones (thyroxine and triiodothyronine) by the thyroid gland. This condition can result from thyroid dysgenesis, dyshormonogenesis, or other causes affecting thyroid function. If untreated, congenital hypothyroidism leads to severe intellectual disability and growth retardation. It is one of the most common preventable causes of intellectual disability and is included in all newborn screening programs.
Usage
Usage note: Often abbreviated as CH in clinical settings.
In Context
- "Early treatment of congenital hypothyroidism with thyroid hormone replacement therapy prevents developmental delays." — Pediatric endocrinology guideline
- "The incidence of congenital hypothyroidism has increased in recent decades, possibly due to improved detection methods." — Epidemiological study