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Congenital Adrenal Hyperplasia
Alexander J. Towbin, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Congenital adrenal hyperplasia (CAH), 21-hydroxylase deficiency (21-OHD)
          • Definitions

            • Inherited disorder of cortisol (± aldosterone) biosynthesis, which leads to hypertrophy of adrenal glands

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • Radiographic Findings

                • Fluoroscopic Findings

                  • CT Findings

                    • MR Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Gross Pathologic & Surgical Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        Selected References

                                        1. Teixeira SR et al: The role of imaging in congenital adrenal hyperplasia. Arq Bras Endocrinol Metabol. 58(7):701-8, 2014
                                        2. Chung EM et al: From the radiologic pathology archives: precocious puberty: radiologic-pathologic correlation. Radiographics. 32(7):2071-99, 2012
                                        3. Kim HK et al: Bilateral testicular adrenal rests in a boy with congenital adrenal hyperplasia. Pediatr Radiol. 40 Suppl 1:S25, 2010
                                        4. Stokowski L: Congenital adrenal hyperplasia: an endocrine disorder with neonatal onset. Crit Care Nurs Clin North Am. 21(2):195-212, 2009
                                        5. Nabhan ZM et al: Upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia. Pediatrics. 120(2):e304-7, 2007
                                        6. Hernanz-Schulman M et al: Sonographic findings in infants with congenital adrenal hyperplasia. Pediatr Radiol. 32(2):130-7, 2002
                                        7. Avni EF et al: Sonographic demonstration of congenital adrenal hyperplasia in the neonate: the cerebriform pattern. Pediatr Radiol. 23(2):88-90, 1993
                                        8. Harinarayana CV et al: Computed tomography in untreated congenital adrenal hyperplasia. Pediatr Radiol. 21(2):103-5, 1991
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Pathology

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Congenital adrenal hyperplasia (CAH), 21-hydroxylase deficiency (21-OHD)
                                                • Definitions

                                                  • Inherited disorder of cortisol (± aldosterone) biosynthesis, which leads to hypertrophy of adrenal glands

                                                IMAGING

                                                • General Features

                                                  • Ultrasonographic Findings

                                                    • Radiographic Findings

                                                      • Fluoroscopic Findings

                                                        • CT Findings

                                                          • MR Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Gross Pathologic & Surgical Features

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Consider

                                                                              Selected References

                                                                              1. Teixeira SR et al: The role of imaging in congenital adrenal hyperplasia. Arq Bras Endocrinol Metabol. 58(7):701-8, 2014
                                                                              2. Chung EM et al: From the radiologic pathology archives: precocious puberty: radiologic-pathologic correlation. Radiographics. 32(7):2071-99, 2012
                                                                              3. Kim HK et al: Bilateral testicular adrenal rests in a boy with congenital adrenal hyperplasia. Pediatr Radiol. 40 Suppl 1:S25, 2010
                                                                              4. Stokowski L: Congenital adrenal hyperplasia: an endocrine disorder with neonatal onset. Crit Care Nurs Clin North Am. 21(2):195-212, 2009
                                                                              5. Nabhan ZM et al: Upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia. Pediatrics. 120(2):e304-7, 2007
                                                                              6. Hernanz-Schulman M et al: Sonographic findings in infants with congenital adrenal hyperplasia. Pediatr Radiol. 32(2):130-7, 2002
                                                                              7. Avni EF et al: Sonographic demonstration of congenital adrenal hyperplasia in the neonate: the cerebriform pattern. Pediatr Radiol. 23(2):88-90, 1993
                                                                              8. Harinarayana CV et al: Computed tomography in untreated congenital adrenal hyperplasia. Pediatr Radiol. 21(2):103-5, 1991