Congenital Hypothyroidism

Congenital hypothyroidism is the most common endocrine problem which leads to irreversible mental retardation. Newborn screening is important for early diagnosis and treatment. TSH measurement based Newborn Screening Program was initiated in December 2006 in our country. Evaluation of the newborn screening test result is important for diagnosis. Administration of thyroxin is the treatment of choice. An initial dosage of 10 to 15 mu g/kg has been recommended. The etiology of congenital hypothyroidism has been seen to play an important role in determining both the disease severity at diagnosis as well as its outcome. With the therapy, TSH normalization is aimed as quickly as possible. Compliance is important for its outcome. Congenital hypothyroidism is permanent if the thyroid scan reveals an ectopic gland or absent thyroid tissue. Otherwise, at the age of 3, thyroxin administration may be discontinued for four weeks to reevaluate the thyroid function tests.