Genetic regulation of thyroid development

Mary P. Gillam, Peter Andreas Kopp*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

47 Scopus citations


Normal thyroid function is essential for development, growth, and metabolic homeostasis. The prerequisites for an euthyroid metabolic state include a normally developed thyroid gland, a properly functioning system for thyroid hormone synthesis, and sufficient iodine intake. Defects in any of the essential steps in thyroid development or thyroid hormone synthesis may result in morphologic abnormalities and impaired hormonogenesis. These defects can be partial or complete, leading to varying degrees of hypothyroidism. Morphologic alterations associated with congenital hypothyroidism include the absence of detectable thyroid tissue, ectopic tissue, thyroid hypoplasia, or a goitrous thyroid. However, in some patients with hypothyroidism, the thyroid is of normal size. This article focuses on defects in thyroid development. Recent insights into the developmental regulation of the calcitonin-producing C cells will not be discussed, and defects in hormone synthesis are discussed in an accompanying article [1].

Original languageEnglish (US)
Pages (from-to)358-363
Number of pages6
JournalCurrent opinion in pediatrics
Issue number4
StatePublished - Aug 14 2001

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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