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Androgen Insensitivity Syndrome
Christine O. Menias, MD; Caroline Reinhold, MD, MSc; Khashayar Rafatzand, MD, FRCPC
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Complete androgen insensitivity syndrome (CAIS), testicular feminization
            • Definitions

              • 46,XYkaryotype with female phenotype with functioning testes but end-organ resistance to androgens
                • Results in 46,XY "undermasculinized genitalia" and phenotypic female

            IMAGING

            • General Features

              • MR Findings

                • Ultrasonographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  Selected References

                                  1. Subramaniam A et al: Androgen insensitivity syndrome: ten years of our experience. Front Biosci (Elite Ed). 5:779-84, 2013
                                  2. Moshiri M et al: Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 32(6):1599-618, 2012
                                  3. Wilson JM et al: Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. J Pediatr Urol. 7(4):416-21, 2011
                                  4. Chavhan GB et al: Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics. 28(7):1891-904, 2008
                                  5. Wein D et al: DA: Campbell-Walsh Urology: Sexual differentiation: Normal and abnormal. vol 4. 9th ed. Philadelphia, Elsevier: 3799-3829, 2007
                                  6. Hughes IA et al: Androgen resistance. Best Pract Res Clin Endocrinol Metab. 20(4):577-98, 2006
                                  7. Hyun G et al: A practical approach to intersex in the newborn period. Urol Clin North Am. 31(3):435-43, viii, 2004
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Pathology

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Synonyms

                                              • Complete androgen insensitivity syndrome (CAIS), testicular feminization
                                            • Definitions

                                              • 46,XYkaryotype with female phenotype with functioning testes but end-organ resistance to androgens
                                                • Results in 46,XY "undermasculinized genitalia" and phenotypic female

                                            IMAGING

                                            • General Features

                                              • MR Findings

                                                • Ultrasonographic Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Gross Pathologic & Surgical Features

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Consider

                                                                  Selected References

                                                                  1. Subramaniam A et al: Androgen insensitivity syndrome: ten years of our experience. Front Biosci (Elite Ed). 5:779-84, 2013
                                                                  2. Moshiri M et al: Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 32(6):1599-618, 2012
                                                                  3. Wilson JM et al: Complete androgen insensitivity syndrome: an anatomic evaluation and sexual function questionnaire pilot study. J Pediatr Urol. 7(4):416-21, 2011
                                                                  4. Chavhan GB et al: Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics. 28(7):1891-904, 2008
                                                                  5. Wein D et al: DA: Campbell-Walsh Urology: Sexual differentiation: Normal and abnormal. vol 4. 9th ed. Philadelphia, Elsevier: 3799-3829, 2007
                                                                  6. Hughes IA et al: Androgen resistance. Best Pract Res Clin Endocrinol Metab. 20(4):577-98, 2006
                                                                  7. Hyun G et al: A practical approach to intersex in the newborn period. Urol Clin North Am. 31(3):435-43, viii, 2004