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Disorders of Sex Development
Brian L. Shaffer, MD; Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        TERMINOLOGY

        • Abbreviations

          • Disorders of sex development (DSD)
        • Synonyms

          • Differences of sexual differentiation
          • Atypical genitalia, ambiguous genitalia (not preferred)
        • Definitions

          • Atypical development of chromosomal, gonadal, or anatomical sex
          • Atypical genitalia; cannot determine fetal sex
            • Secondary to genetic, anatomic, environmental, or hormonal abnormality
          • General issues
            • Refer to fetal sex not gender (gender is self-identified)
            • Phallus refers to genital tubercle (penis or clitoris)
          • Old terminology to be avoided
            • Intersex, hermaphroditism, pseudohermaphroditism, sex reversal
            • New terminology emphasizes embryologic/genetic origin of disorders
          • 4 general categories of DSD
            • XY DSD: "Underdeveloped" male
            • XX DSD: "Overdeveloped" female
            • Sex chromosome aneuploidy (± typical genitalia)
              • Most often with typical genitalia seen
            • Syndromic/structural abnormality

        IMAGING

        • General Features

          • Ultrasonographic Findings

            • Imaging Recommendations

              DIFFERENTIAL DIAGNOSIS

                PATHOLOGY

                • General Features

                  • Staging, Grading, & Classification

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Consider

                              • Image Interpretation Pearls

                                Selected References

                                1. Smet ME et al: Discordant fetal sex on nipt and ultrasound. Prenat Diagn. 40(11):1353-65, 2020
                                2. Adam MP et al: Ambiguous genitalia: what prenatal genetic testing is practical? Am J Med Genet A. 158A(6):1337-43, 2012
                                3. Chitty LS et al: Prenatal management of disorders of sex development. J Pediatr Urol. 8(6):576-84, 2012
                                4. Moshiri M et al: Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 32(6):1599-618, 2012
                                5. Nimkarn S et al: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a paradigm for prenatal diagnosis and treatment. Ann N Y Acad Sci. 1192:5-11, 2010
                                6. Katorza E et al: Sex differentiation disorders (SDD) prenatal sonographic diagnosis, genetic and hormonal work-up. Pediatr Endocrinol Rev. 7(1):12-21, 2009
                                7. Lee PA et al: Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 118(2):e488-500, 2006
                                8. Bidarkar SS et al: Evaluation and management of the abnormal gonad. Semin Pediatr Surg. 14(2):118-23, 2005
                                9. Saada J et al: Sonography in prenatal diagnosis of congenital adrenal hyperplasia. Prenat Diagn. 24(8):627-30, 2004
                                10. Pinette MG et al: Normal growth and development of fetal external genitalia demonstrated by sonography. J Clin Ultrasound. 31(9):465-72, 2003
                                11. Naylor CS et al: Use of three-dimensional ultrasonography for prenatal diagnosis of ambiguous genitalia. J Ultrasound Med. 20(12):1365-7, 2001
                                12. Zalel Y et al: The development of the fetal penis--an in utero sonographic evaluation. Ultrasound Obstet Gynecol. 17(2):129-31, 2001
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Clinical Issues

                                      TERMINOLOGY

                                      • Abbreviations

                                        • Disorders of sex development (DSD)
                                      • Synonyms

                                        • Differences of sexual differentiation
                                        • Atypical genitalia, ambiguous genitalia (not preferred)
                                      • Definitions

                                        • Atypical development of chromosomal, gonadal, or anatomical sex
                                        • Atypical genitalia; cannot determine fetal sex
                                          • Secondary to genetic, anatomic, environmental, or hormonal abnormality
                                        • General issues
                                          • Refer to fetal sex not gender (gender is self-identified)
                                          • Phallus refers to genital tubercle (penis or clitoris)
                                        • Old terminology to be avoided
                                          • Intersex, hermaphroditism, pseudohermaphroditism, sex reversal
                                          • New terminology emphasizes embryologic/genetic origin of disorders
                                        • 4 general categories of DSD
                                          • XY DSD: "Underdeveloped" male
                                          • XX DSD: "Overdeveloped" female
                                          • Sex chromosome aneuploidy (± typical genitalia)
                                            • Most often with typical genitalia seen
                                          • Syndromic/structural abnormality

                                      IMAGING

                                      • General Features

                                        • Ultrasonographic Findings

                                          • Imaging Recommendations

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                • Staging, Grading, & Classification

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          DIAGNOSTIC CHECKLIST

                                                          • Consider

                                                            • Image Interpretation Pearls

                                                              Selected References

                                                              1. Smet ME et al: Discordant fetal sex on nipt and ultrasound. Prenat Diagn. 40(11):1353-65, 2020
                                                              2. Adam MP et al: Ambiguous genitalia: what prenatal genetic testing is practical? Am J Med Genet A. 158A(6):1337-43, 2012
                                                              3. Chitty LS et al: Prenatal management of disorders of sex development. J Pediatr Urol. 8(6):576-84, 2012
                                                              4. Moshiri M et al: Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 32(6):1599-618, 2012
                                                              5. Nimkarn S et al: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a paradigm for prenatal diagnosis and treatment. Ann N Y Acad Sci. 1192:5-11, 2010
                                                              6. Katorza E et al: Sex differentiation disorders (SDD) prenatal sonographic diagnosis, genetic and hormonal work-up. Pediatr Endocrinol Rev. 7(1):12-21, 2009
                                                              7. Lee PA et al: Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 118(2):e488-500, 2006
                                                              8. Bidarkar SS et al: Evaluation and management of the abnormal gonad. Semin Pediatr Surg. 14(2):118-23, 2005
                                                              9. Saada J et al: Sonography in prenatal diagnosis of congenital adrenal hyperplasia. Prenat Diagn. 24(8):627-30, 2004
                                                              10. Pinette MG et al: Normal growth and development of fetal external genitalia demonstrated by sonography. J Clin Ultrasound. 31(9):465-72, 2003
                                                              11. Naylor CS et al: Use of three-dimensional ultrasonography for prenatal diagnosis of ambiguous genitalia. J Ultrasound Med. 20(12):1365-7, 2001
                                                              12. Zalel Y et al: The development of the fetal penis--an in utero sonographic evaluation. Ultrasound Obstet Gynecol. 17(2):129-31, 2001