Abstract
Thyroid hormone is essential for normal brain development starting in the early embryonic period and continuing throughout the first years of life. Untreated congenital hypothyroidism leads to permanent intellectual and motor disabilities. Neonatal screening programmes have proven to be very successful in preventing brain damage by early detection and treatment of congenital hypothyroidism. Congenital hypothyroidism may be of thyroidal (primary) or of hypothalamic–pituitary (central) origin. Primary congenital hypothyroidism accounts for approximately 90–95% of all cases and may be due to abnormal thyroid gland formation (dysgenesis) or defective thyroid hormone syntheses by a structurally normal gland (dyshormonogenesis). Central congenital hypothyroidism has a reported incidence of up to one in 16 000 live births and may occur in isolation, but in the majority of cases is accompanied by additional pituitary hormone deficiencies. In this chapter the aetiology, diagnostics, and treatment of congenital hypothyroidism are discussed.
| Original language | English |
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| Title of host publication | Oxford Textbook of Endocrinology and Diabetes 3e (3 edn) Oxford Textbook of Endocrinology and Diabetes 3e (3 edn) |
| Pages | 1449-1460 |
| Publication status | Published - 2022 |