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Disorders of Sexual Development
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        • Diagnostic Checklist

          TERMINOLOGY

          • Abbreviations

            • Disorders of sexual development (DSD)
          • Synonyms

            • Ambiguous genitalia (not preferred term but still used)
          • Definitions

            • Chromosome-phenotype discordance
            • Atypical gonadal anatomy; cannot tell sex of fetus
              • 2° to genetic, anatomic, 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 genetic origin of disorders

          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. Adam MP et al: Ambiguous genitalia: what prenatal genetic testing is practical? Am J Med Genet A. 158A(6):1337-43, 2012
                                  2. Chitty LS et al: Prenatal management of disorders of sex development. J Pediatr Urol. 8(6):576-84, 2012
                                  3. Moshiri M et al: Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 32(6):1599-618, 2012
                                  4. 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
                                  5. Katorza E et al: Sex differentiation disorders (SDD) prenatal sonographic diagnosis, genetic and hormonal work-up. Pediatr Endocrinol Rev. 7(1):12-21, 2009
                                  6. Lee PA et al: Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 118(2):e488-500, 2006
                                  7. Bidarkar SS et al: Evaluation and management of the abnormal gonad. Semin Pediatr Surg. 14(2):118-23, 2005
                                  8. Saada J et al: Sonography in prenatal diagnosis of congenital adrenal hyperplasia. Prenat Diagn. 24(8):627-30, 2004
                                  9. Pinette MG et al: Normal growth and development of fetal external genitalia demonstrated by sonography. J Clin Ultrasound. 31(9):465-72, 2003
                                  10. Naylor CS et al: Use of three-dimensional ultrasonography for prenatal diagnosis of ambiguous genitalia. J Ultrasound Med. 20(12):1365-7, 2001
                                  11. Zalel Y et al: The development of the fetal penis--an in utero sonographic evaluation. Ultrasound Obstet Gynecol. 17(2):129-31, 2001
                                  12. Bronshtein M et al: Prenatal sonographic signs of possible fetal genital anomalies. Prenat Diagn. 15(3):215-9, 1995
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Clinical Issues

                                        • Diagnostic Checklist

                                          TERMINOLOGY

                                          • Abbreviations

                                            • Disorders of sexual development (DSD)
                                          • Synonyms

                                            • Ambiguous genitalia (not preferred term but still used)
                                          • Definitions

                                            • Chromosome-phenotype discordance
                                            • Atypical gonadal anatomy; cannot tell sex of fetus
                                              • 2° to genetic, anatomic, 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 genetic origin of disorders

                                          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. Adam MP et al: Ambiguous genitalia: what prenatal genetic testing is practical? Am J Med Genet A. 158A(6):1337-43, 2012
                                                                  2. Chitty LS et al: Prenatal management of disorders of sex development. J Pediatr Urol. 8(6):576-84, 2012
                                                                  3. Moshiri M et al: Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics. 32(6):1599-618, 2012
                                                                  4. 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
                                                                  5. Katorza E et al: Sex differentiation disorders (SDD) prenatal sonographic diagnosis, genetic and hormonal work-up. Pediatr Endocrinol Rev. 7(1):12-21, 2009
                                                                  6. Lee PA et al: Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics. 118(2):e488-500, 2006
                                                                  7. Bidarkar SS et al: Evaluation and management of the abnormal gonad. Semin Pediatr Surg. 14(2):118-23, 2005
                                                                  8. Saada J et al: Sonography in prenatal diagnosis of congenital adrenal hyperplasia. Prenat Diagn. 24(8):627-30, 2004
                                                                  9. Pinette MG et al: Normal growth and development of fetal external genitalia demonstrated by sonography. J Clin Ultrasound. 31(9):465-72, 2003
                                                                  10. Naylor CS et al: Use of three-dimensional ultrasonography for prenatal diagnosis of ambiguous genitalia. J Ultrasound Med. 20(12):1365-7, 2001
                                                                  11. Zalel Y et al: The development of the fetal penis--an in utero sonographic evaluation. Ultrasound Obstet Gynecol. 17(2):129-31, 2001
                                                                  12. Bronshtein M et al: Prenatal sonographic signs of possible fetal genital anomalies. Prenat Diagn. 15(3):215-9, 1995