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Congenital Adrenal Hyperplasia
Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Congenital adrenal hyperplasia (CAH)
            • Definitions

              • Autosomal recessive disorder of cortisol production
                • 95% are from 21-hydroxylase deficiency
                  • Virilizing type &/or salt-wasting type
                • 5% from 11- or 17-hydroxylase deficiency

            IMAGING

            • General Features

              • Ultrasonographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              Selected References

                              1. Khattab A et al: Noninvasive prenatal diagnosis of congenital adrenal hyperplasia. Endocr Dev. 30:37-41, 2016
                              2. Odenwald B et al: Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life. Eur J Endocrinol. 174(2):177-86, 2016
                              3. Engberg H et al: Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study. Psychoneuroendocrinology. 60:195-205, 2015
                              4. Heland S et al: Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone. Aust N Z J Obstet Gynaecol. ePub, 2015
                              5. Gorduza D et al: Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures. J Pediatr Urol. 10(5):941-7, 2014
                              6. Maki E et al: Imaging and differential diagnosis of suprarenal masses in the fetus. J Ultrasound Med. 33(5):895-904, 2014
                              7. Reisch N et al: Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency. J Clin Endocrinol Metab. 98(11):E1820-6, 2013
                              8. Shorakae S et al: Congenital adrenal hyperplasia and pregnancy. BMJ Case Rep. 2013, 2013
                              9. van Vuuren SH et al: Size and volume charts of fetal kidney, renal pelvis and adrenal gland. Ultrasound Obstet Gynecol. 40(6):659-64, 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

                                          • Congenital adrenal hyperplasia (CAH)
                                        • Definitions

                                          • Autosomal recessive disorder of cortisol production
                                            • 95% are from 21-hydroxylase deficiency
                                              • Virilizing type &/or salt-wasting type
                                            • 5% from 11- or 17-hydroxylase deficiency

                                        IMAGING

                                        • General Features

                                          • Ultrasonographic Findings

                                            • Imaging Recommendations

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          Selected References

                                                          1. Khattab A et al: Noninvasive prenatal diagnosis of congenital adrenal hyperplasia. Endocr Dev. 30:37-41, 2016
                                                          2. Odenwald B et al: Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life. Eur J Endocrinol. 174(2):177-86, 2016
                                                          3. Engberg H et al: Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study. Psychoneuroendocrinology. 60:195-205, 2015
                                                          4. Heland S et al: Preventing female virilisation in congenital adrenal hyperplasia: The controversial role of antenatal dexamethasone. Aust N Z J Obstet Gynaecol. ePub, 2015
                                                          5. Gorduza D et al: Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures. J Pediatr Urol. 10(5):941-7, 2014
                                                          6. Maki E et al: Imaging and differential diagnosis of suprarenal masses in the fetus. J Ultrasound Med. 33(5):895-904, 2014
                                                          7. Reisch N et al: Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency. J Clin Endocrinol Metab. 98(11):E1820-6, 2013
                                                          8. Shorakae S et al: Congenital adrenal hyperplasia and pregnancy. BMJ Case Rep. 2013, 2013
                                                          9. van Vuuren SH et al: Size and volume charts of fetal kidney, renal pelvis and adrenal gland. Ultrasound Obstet Gynecol. 40(6):659-64, 2012