Clerc J et al: Scintigraphic imaging of paediatric thyroid dysfunction. Horm Res. 70(1):1-13, 2008
Schoen EJ et al: The key role of newborn thyroid scintigraphy with isotopic iodide (123I) in defining and managing congenital hypothyroidism. Pediatrics. 114(6):e683-8, 2004
el-Desouki M et al: Thyroid scintigraphy and perchlorate discharge test in the diagnosis of congenital hypothyroidism. Eur J Nucl Med. 22(9):1005-8, 1995
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Clinical Issues
TERMINOLOGY
Definitions
Congenital hypothyroidism (CH): Inadequate thyroid hormone production or insensitivity to thyroid hormone, manifested in infancy
Primary CH: Developmental defects in thyroid, can be permanent or transient (due to maternal effects, iodine exposure or deficiency)
Dysgenesis (> 80%)
Ectopia, hypogenesis, agenesis
Usually sporadic
Dyshormonogenesis (20%)
Usually defect in thyroid hormone synthesis (e.g., TSH receptor insensitivity, iodide transporter and organification defects, iodine recycling defects, thyroglobulin synthesis defects)
TSH usually very high on newborn screening
Usually transmitted as autosomal recessive trait
Genetic counseling indicated for future pregnancies
Secondary CH: Developmental defects (anatomic or functional) in pituitary or hypothalamus
IMAGING
General Features
Nuclear Medicine Findings
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Livett T et al: Imaging in congenital hypothyroidism. Curr Opin Pediatr. 31(4):555-61, 2019
Keller-Petrot I et al: Congenital hypothyroidism: role of nuclear medicine. Semin Nucl Med. 47(2):135-42, 2017
GrĂ¼ters A et al: Detection and treatment of congenital hypothyroidism. Nat Rev Endocrinol. 8(2):104-13, 2011
Clerc J et al: Scintigraphic imaging of paediatric thyroid dysfunction. Horm Res. 70(1):1-13, 2008
Schoen EJ et al: The key role of newborn thyroid scintigraphy with isotopic iodide (123I) in defining and managing congenital hypothyroidism. Pediatrics. 114(6):e683-8, 2004
el-Desouki M et al: Thyroid scintigraphy and perchlorate discharge test in the diagnosis of congenital hypothyroidism. Eur J Nucl Med. 22(9):1005-8, 1995
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