link
Bookmarks
Gonadal Dysgenesis
Douglas Rogers, MD; Christine O. Menias, MD
To access 4,300 diagnoses written by the world's leading experts in radiology.Try it free - 15 days
0
0
0
0

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • 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
                • 46,XY embryonic testicular regression
                • 46,XY bilateral vanishing testes syndrome
              • 45,XO/46,XY mosaic ("mixed") GD

          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. Gravholt CH et al: Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 15(10):601-14, 2019
                                        2. Weidler EM et al: Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: considerations in newborns and adolescents. Semin Pediatr Surg. 28(5):150841, 2019
                                        3. Roth LM et al: Classical gonadoblastoma: its relationship to the "dissecting" variant and undifferentiated gonadal tissue. Histopathology. 72(4):545-55, 2018
                                        4. Moriya K et al: Impact of laparoscopy for diagnosis and treatment in patients with disorders of sex development. J Pediatr Urol. 10(5):955-61, 2014
                                        5. Kumar J et al: Managing disorder of sexual development surgically: a single center experience. Indian J Urol. 28(3):286-91, 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. 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
                                        8. 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
                                        Loading...
                                        Related Differential Diagnoses
                                        Loading...
                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Terminology

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • 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
                                                      • 46,XY embryonic testicular regression
                                                      • 46,XY bilateral vanishing testes syndrome
                                                    • 45,XO/46,XY mosaic ("mixed") GD

                                                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. Gravholt CH et al: Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 15(10):601-14, 2019
                                                                              2. Weidler EM et al: Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: considerations in newborns and adolescents. Semin Pediatr Surg. 28(5):150841, 2019
                                                                              3. Roth LM et al: Classical gonadoblastoma: its relationship to the "dissecting" variant and undifferentiated gonadal tissue. Histopathology. 72(4):545-55, 2018
                                                                              4. Moriya K et al: Impact of laparoscopy for diagnosis and treatment in patients with disorders of sex development. J Pediatr Urol. 10(5):955-61, 2014
                                                                              5. Kumar J et al: Managing disorder of sexual development surgically: a single center experience. Indian J Urol. 28(3):286-91, 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. 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
                                                                              8. 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