[Congenital hypothyroidism missed on newborn screening: report of two cases]

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1990 Sep-Oct;31(5):336-9.
[Article in Chinese]

Abstract

Two male term babies were born at Mackay Memorial Hospital; both were born without incident. Newborn screenings (including phenylketonuria, homocystinuria, galactosemia, congenital hypothyroidism and G-6-PD deficiency) were performed at the age of three days and judged to be normal. In the later neonatal period, case 1 gradually developed prolonged jaundice, poor feeding and poor weight gain. The rechecked thyroid stimulating hormone (TSH) level was 276.3 mU/l. Case 2 was admitted with seizures; the TSH level, rechecked by chance, showing 11.6 mU/l. Under the suspicion of congenital hypothyroidism, serum confirmation tests were performed and showed TSH 393.6 mU/l, 37.09 mU/l and T4 2.87 micrograms/dl, 4.59 micrograms/dl, respectively. The diagnosis was, thus, congenital hypothyroidism with delayed rise in TSH level. The conclusion is that, regardless of the result of newborn screening, a serum confirmation test (T4 & TSH level) should be done in any infant who is suspected to have congenital hypothyroidism.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Congenital Hypothyroidism
  • Humans
  • Hypothyroidism / diagnosis*
  • Infant, Newborn
  • Male
  • Neonatal Screening*
  • Thyrotropin / blood
  • Thyroxine / blood

Substances

  • Thyrotropin
  • Thyroxine