Title: The prenatal role of thyroid hormone evidenced by fetomaternal Pit-1 deficiency
Authors: de Zegher, Francis ×
Pernasetti, F
Vanhole, Christine
Devlieger, Hugo
Van den Berghe, Greet
Martial, J A #
Issue Date: Nov-1995
Series Title: Journal of Clinical Endocrinology and Metabolism vol:80 issue:11 pages:3127-30
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.
ISSN: 0021-972X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Intensive Care Medicine
Section Newborn (-)
× corresponding author
# (joint) last author

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