Management

Treatment of congenital central hypothyroidism consists of thyroid hormone replacement with regular monitoring of free T4 concentrations. Prognosis is excellent with early diagnosis and adequate thyroid hormone replacement. Delayed diagnosis may result in permanent cognitive impairment. The pathophysiology and long-term consequences of macroorchidism are still to be elucidated. But most men have normal fertility.

Most newborn screening programs for congenital hypothyroidism are TSH-based and only detect primary congenital hypothyroidism (of thyroidal origin) and miss central forms. A few countries/regions use T4-based screening enabling early detection of congenital central hypothyroidism.