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Congenital Hypothyroidism
Andrew T. Trout, MD
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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 (70%)
                • Ectopia, hypogenesis, agenesis
                • Usually sporadic
              • Dyshormonogenesis (20%)
                • Usually a 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

                            1. GrĂ¼ters A et al: Detection and treatment of congenital hypothyroidism. Nat Rev Endocrinol. 8(2):104-13, 2011
                            2. Rastogi MV et al: Congenital hypothyroidism. Orphanet J Rare Dis. 5:17, 2010
                            3. Clerc J et al: Scintigraphic imaging of paediatric thyroid dysfunction. Horm Res. 70(1):1-13, 2008
                            4. 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
                            5. 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 (70%)
                                          • Ectopia, hypogenesis, agenesis
                                          • Usually sporadic
                                        • Dyshormonogenesis (20%)
                                          • Usually a 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

                                                      1. GrĂ¼ters A et al: Detection and treatment of congenital hypothyroidism. Nat Rev Endocrinol. 8(2):104-13, 2011
                                                      2. Rastogi MV et al: Congenital hypothyroidism. Orphanet J Rare Dis. 5:17, 2010
                                                      3. Clerc J et al: Scintigraphic imaging of paediatric thyroid dysfunction. Horm Res. 70(1):1-13, 2008
                                                      4. 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
                                                      5. 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