title: Neonatal hypothyroidism: recent developments.
abstract: This chapter summarizes recent developments in the field of sporadic congenital hypothyroidism (CH) and transient neonatal hypothyroidism detected by systematic neonatal thyroid screening. The incidence of CH detected by screening is about 1 in 4000 births in North America, Europe and Australia; it is lower (1 in 7000) in Japan. The aetiology remains unknown; genetic and environmental factors are possibly involved. The role of autoimmunity has recently been studied extensively. Antithyroglobulin (ATA) and antimicrosomal antibodies are not involved; the possible role of thyroid growth blocking antibodies (TGBAb) of maternal origin remains controversial. Evaluation of clinical signs, bone maturation, serum T4 and the position and size of the thyroid by scintigraphy at the time of diagnosis in CH infants are important because these variables are related to the final psychoneuro-intellectual prognosis, irrespective of the adequacy of therapy. Thyroid echography always distinguishes a normal thyroid in the neonate but cannot define precisely the type of thyroid dysgenesis, if present (e.g. ectopic, athyreosis). The determination of serum Tg contributes to the diagnosis but its specificity and sensitivity are insufficient to replace thyroid scintigraphy. Therapy by LT4, at an initial dose of 25-50 micrograms/day in full-term infants, is universally recommended. The objective of therapy is to reach as soon as possible and to maintain serum concentrations of total and free T4 at the upper limits of normal for age. Serum TSH should decrease as rapidly as possible below 20 microU/ml and then remain within the normal range. Persistent hyperthyrotropinaemia in spite of normal serum T4 has to be avoided as it could represent poor compliance and/or insufficient therapy. Programmes of 10 to 14 years of follow-up of CH infants have now shown that the neuropsychointellectual prognosis of CH is excellent in all cases when therapy and psychosocial environment are adequate. Although still within the normal range, IQ is somewhat lower in spite of appropriate therapy in cases of severe prenatal hypothyroidism and some transient and correctable neurological signs occasionally occur. In Western countries transient neonatal hypothyroidism is usually due to iodine deficiency or iodine excess; the newborn infant is hypersensitive to the antithyroid action of an extraphysiological supply of iodine. TSH binding inhibitor immunoglobulins (TBII) of maternal origin occasionally cause transient neonatal hypothyroidism. In developing countries with severe iodine deficiency and endemic goitre, the incidence of thyroid failure in the newborn can be as high as 1 in 10.(ABSTRACT TRUNCATED AT 400 WORDS)
authors.forename: F
authors.initials: F
authors.lastname: Delange
mesh_terms: D003409:Congenital Hypothyroidism; D006801:Humans; D007231:Infant, Newborn