Genetic regulation of thyroid development.
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.
Gillam
M P
MP
Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University, Chicago, Illinois 60611, USA.
Kopp
P
P
D000818:Animals; D003409:Congenital Hypothyroidism; D004268:DNA-Binding Proteins / Q000235:genetics; D051858:Forkhead Transcription Factors; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics*; D051379:Mice; D009687:Nuclear Proteins / Q000235:genetics; D000072636:PAX8 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins / Q000235:genetics; D013961:Thyroid Gland / Q000002:abnormalities* / Q000196:embryology* / Q000502:physiology; D000074482:Thyroid Nuclear Factor 1; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; C106894:FOXE1 protein, human; D051858:Forkhead Transcription Factors; D009687:Nuclear Proteins; D000072636:PAX8 Transcription Factor; C083325:PAX8 protein, human; D051761:Paired Box Transcription Factors; C499496:Pax8 protein, mouse; D012097:Repressor Proteins; D000074482:Thyroid Nuclear Factor 1; D015534:Trans-Activators; D014157:Transcription Factors