Aplasia / hypoplasia
Reviewer: Shahidul Islam, M.D., Ph.D. (see Reviewers page)
Revised: 31 March 2013, last major update March 2009
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.
See also screening-neonatal hypothyroidism in Clinical Chemistry chapter
- Total or partial absence of thyroid gland
- Most common cause of congenital hypothyroidism
- Hemiagenesis (aplasia of one lobe) is not associated with functional defects; has incidence of 1 per 2000 schoolchildren in iodine sufficient area
- Associated with Williams-Beuren syndrome
(Horm Res 2008;70:316)
Molecular / cytogenetics description
End of Thyroid gland > Congenital anomalies > Aplasia / hypoplasia
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