Pilot study for congenital hypothyroidism, preliminary report

J Endocrinol Invest. 1980 Apr-Jun;3(2):181-4. doi: 10.1007/BF03348248.

Abstract

Preliminary results of a pilot study on congenital hypothyroidism performed on 8,025 newborns in Italy over a 10-month period are reported. The determination of both T4 and TSH on dried blood, spotted on filter paper, as screening procedure at day 3-5 of life revealed three cases of primary hypothyroidism and one case of hypo-thyroxin-binding-globulinemia (hypo-TBG-emia). The diagnosis of primary hypothyroidism was established on the basis of low T4 and high TSH levels in two of the three cases; in the third, with elevated TSH and normal T4 levels at screening, thyroid scintiscan showed an ectopic gland located at the base of the tongue. In the case of hypo-TBG-emia, low T4 and TBG levels were associated with normal TSH values. Some cases of transient hypothyroidism were observed in premature infants.

MeSH terms

  • Congenital Hypothyroidism*
  • Female
  • Humans
  • Hypothyroidism / diagnosis
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis*
  • Intellectual Disability / diagnosis
  • Intellectual Disability / prevention & control
  • Male
  • Mass Screening
  • Pilot Projects
  • Thyrotropin / blood
  • Thyroxine / blood

Substances

  • Thyrotropin
  • Thyroxine