title: Heterogeneity of congenital primary hypothyroidism: the importance of thyroid scintigraphy.
abstract: Current newborn screening programs in California and most of the U.S. depend for diagnosis of congenital primary hypothyroidism on demonstrating an elevated thyrotropin (TSH) level in infants with the lowest 5% to 10% of thyroxine (T4) levels by filter-paper bloodspot test. The diagnosis of primary congenital hypothyroidism based on low T4 with high TSH fails to distinguish between transient hypothyroidism, ectopic or hypoplastic thyroid, athyrosis, dyshormonogenesis, and transient hyperthyrotropinemia. We screened 166,300 newborn infants for primary congenital hypothyroidism for 6.5 years and confirmed the diagnosis in 46 cases; none of these patients had a goiter. Thyroid scintigraphy was performed in 40 with technetium-99m (Tc-99m) in the first eight cases tested and iodine-123 (I-123) in 29 of the last 32 cases. Fifteen infants were athyroid and seven had ectopic or hypoplastic glands; in 18 the thyroid gland appeared normal (present, normal location). Congenital hypothyroidism represents a spectrum of diseases from transient underactivity to complete absence of the thyroid gland. We recommend that, before starting treatment, a specific anatomic and functional diagnosis be confirmed by thyroid scintigraphy and other thyroid function tests.
authors: Department of Pediatrics, Kaiser Permanente Medical Center, Oakland, California.
authors: E J
authors: EJ
authors: Schoen
authors: L V
authors: LV
authors: dos Remedios
authors: M
authors: M
authors: Backstrom
mesh_terms: D003409:Congenital Hypothyroidism; D003937:Diagnosis, Differential; D006801:Humans; D007037:Hypothyroidism / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D011877:Radionuclide Imaging; D013960:Thyroid Function Tests; D013961:Thyroid Gland / Q000000981:diagnostic imaging*