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Disorders of Sexual Development
Douglas Rogers, MD
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KEY FACTS

  • Terminology

    • Imaging

      TERMINOLOGY

      • Abbreviations

        • Disorders of sexual development (DSD)
      • Synonyms

        • Ambiguous genitalia
      • Definitions

        • Rare conditions in which external genitals are not clearly either male or female, or do not match chromosomal sex or internal genital organs

      IMAGING

      • General Features

        • MR Findings

          • Ultrasonographic Findings

            • Imaging Recommendations

              • Other Modality Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              • Image Interpretation Pearls

                                Selected References

                                1. Kosti K et al: Long-term consequences of androgen insensitivity syndrome. Maturitas. 127:51-4, 2019
                                2. Iezzi ML et al: Clitoromegaly in childhood and adolescence: behind one clinical sign, a clinical sea. Sex Dev. 12(4):163-74, 2018
                                3. Nakhal RS et al: Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. Radiology. 268(1):153-60, 2013
                                4. Nezzo M et al: Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults. Case Rep Radiol. 2013:158484, 2013
                                5. Mansour SM et al: Does MRI add to ultrasound in the assessment of disorders of sex development? Eur J Radiol. 81(9):2403-10, 2012
                                6. Moshiri M et al: Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 32(6):1599-618, 2012
                                7. Chavhan GB et al: Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics. 28(7):1891-904, 2008
                                8. Hughes IA et al: Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. Best Pract Res Clin Endocrinol Metab. 21(3):351-65, 2007
                                9. Nabhan ZM et al: Disorders of sex development. Curr Opin Obstet Gynecol. 19(5):440-5, 2007
                                10. Hughes IA et al: Consensus statement on management of intersex disorders. Arch Dis Child. 91(7):554-63, 2006
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    TERMINOLOGY

                                    • Abbreviations

                                      • Disorders of sexual development (DSD)
                                    • Synonyms

                                      • Ambiguous genitalia
                                    • Definitions

                                      • Rare conditions in which external genitals are not clearly either male or female, or do not match chromosomal sex or internal genital organs

                                    IMAGING

                                    • General Features

                                      • MR Findings

                                        • Ultrasonographic Findings

                                          • Imaging Recommendations

                                            • Other Modality Findings

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          DIAGNOSTIC CHECKLIST

                                                          • Consider

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Kosti K et al: Long-term consequences of androgen insensitivity syndrome. Maturitas. 127:51-4, 2019
                                                              2. Iezzi ML et al: Clitoromegaly in childhood and adolescence: behind one clinical sign, a clinical sea. Sex Dev. 12(4):163-74, 2018
                                                              3. Nakhal RS et al: Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. Radiology. 268(1):153-60, 2013
                                                              4. Nezzo M et al: Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults. Case Rep Radiol. 2013:158484, 2013
                                                              5. Mansour SM et al: Does MRI add to ultrasound in the assessment of disorders of sex development? Eur J Radiol. 81(9):2403-10, 2012
                                                              6. Moshiri M et al: Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 32(6):1599-618, 2012
                                                              7. Chavhan GB et al: Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics. 28(7):1891-904, 2008
                                                              8. Hughes IA et al: Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development. Best Pract Res Clin Endocrinol Metab. 21(3):351-65, 2007
                                                              9. Nabhan ZM et al: Disorders of sex development. Curr Opin Obstet Gynecol. 19(5):440-5, 2007
                                                              10. Hughes IA et al: Consensus statement on management of intersex disorders. Arch Dis Child. 91(7):554-63, 2006