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Gonadal Dysgenesis
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

            • Abbreviations

              • Gonadal dysgenesis (GD)
            • Synonyms

              • Disorder of sexual development
            • Definitions

              • Replacement of gonads (testes or ovaries) by fibrous tissue, devoid of germ cells
              • Range of abnormalities of gonads and internal genitalia with variable karyotypes
                • 45,X Turner syndrome: Most common karyotype (50%)
                • 46,XX "pure" GD
                • 46,XY "complete" GD including
                  • 46,XYembryonic testicular regression (ETR)
                  • 46,XY bilateral vanishing testes syndrome (BVTS)
                • 45,XO/46,XYmosaic ("mixed") GD
              • Confusing use of terms "pure" and "complete" in literature; best replaced by specification of karyotype

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Ultrasonographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        • Image Interpretation Pearls

                                          Selected References

                                          1. Moriya K et al: Impact of laparoscopy for diagnosis and treatment in patients with disorders of sex development. J Pediatr Urol. Epub ahead of print, 2014
                                          2. Kumar J et al: Managing disorder of sexual development surgically: A single center experience. Indian J Urol. 28(3):286-91, 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. Ocal G et al: The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? Eur J Pediatr. 171(10):1497-502, 2012
                                          5. Steven M et al: Laparoscopy versus ultrasonography for the evaluation of Mullerian structures in children with complex disorders of sex development. Pediatr Surg Int. 28(12):1161-4, 2012
                                          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

                                                    • Abbreviations

                                                      • Gonadal dysgenesis (GD)
                                                    • Synonyms

                                                      • Disorder of sexual development
                                                    • Definitions

                                                      • Replacement of gonads (testes or ovaries) by fibrous tissue, devoid of germ cells
                                                      • Range of abnormalities of gonads and internal genitalia with variable karyotypes
                                                        • 45,X Turner syndrome: Most common karyotype (50%)
                                                        • 46,XX "pure" GD
                                                        • 46,XY "complete" GD including
                                                          • 46,XYembryonic testicular regression (ETR)
                                                          • 46,XY bilateral vanishing testes syndrome (BVTS)
                                                        • 45,XO/46,XYmosaic ("mixed") GD
                                                      • Confusing use of terms "pure" and "complete" in literature; best replaced by specification of karyotype

                                                    IMAGING

                                                    • General Features

                                                      • CT Findings

                                                        • MR Findings

                                                          • Ultrasonographic Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Gross Pathologic & Surgical Features

                                                                    • Microscopic Features

                                                                      CLINICAL ISSUES

                                                                      • Presentation

                                                                        • Demographics

                                                                          • Natural History & Prognosis

                                                                            • Treatment

                                                                              DIAGNOSTIC CHECKLIST

                                                                              • Consider

                                                                                • Image Interpretation Pearls

                                                                                  Selected References

                                                                                  1. Moriya K et al: Impact of laparoscopy for diagnosis and treatment in patients with disorders of sex development. J Pediatr Urol. Epub ahead of print, 2014
                                                                                  2. Kumar J et al: Managing disorder of sexual development surgically: A single center experience. Indian J Urol. 28(3):286-91, 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. Ocal G et al: The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? Eur J Pediatr. 171(10):1497-502, 2012
                                                                                  5. Steven M et al: Laparoscopy versus ultrasonography for the evaluation of Mullerian structures in children with complex disorders of sex development. Pediatr Surg Int. 28(12):1161-4, 2012