The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency

J Clin Endocrinol Metab. 1995 Nov;80(11):3127-30. doi: 10.1210/jcem.80.11.7593413.

Abstract

The role of thyroid hormone in the human fetus is uncertain; a significant amount of T4 is transferred from the maternal to the fetal circulation. A mother-infant pair was found to be heterozygotic for a point mutation in codon 271 of the gene encoding Pit-1, a pituitary-specific transcription factor regulating somatotrope, lactotrope, and thyrotrope function. At birth, serum T4 was undetectable in mother and infant. The newborn presented with a striking delay of respiratory, cardiovascular, neurological, and bone maturation. Despite replacement therapy since birth, neurological development of the infant is impaired. Fetomaternal Pit-1 deficiency resulted in unmitigated fetal hypothyroidism that unmasked thyroid hormone as a potent endogenous drive of fetal maturation and revealed placental transfer of maternal T4 as a rescue mechanism for infants with congenital hypothyroidism, preventing fetal and neonatal symptoms of thyroid deficiency and safeguarding developmental potential.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA-Binding Proteins / genetics
  • DNA-Binding Proteins / metabolism*
  • Female
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / physiopathology*
  • Fetus / physiology*
  • Genes
  • Heterozygote
  • Homeodomain Proteins / genetics
  • Humans
  • Infant, Newborn
  • Point Mutation
  • Pregnancy
  • Pregnancy Complications / physiopathology*
  • Radiography, Thoracic
  • Skull / diagnostic imaging
  • Thyroid Hormones / physiology*
  • Transcription Factor Pit-1
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*

Substances

  • DNA-Binding Proteins
  • Homeodomain Proteins
  • POU1F1 protein, human
  • Thyroid Hormones
  • Transcription Factor Pit-1
  • Transcription Factors