link
Bookmarks
Congenital Adrenal Hyperplasia
Roya Sohaey, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Subscribe
0
0
0
0

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Congenital adrenal hyperplasia (CAH)
            • Synonyms

              • Clitoral hypertrophy = clitoromegaly
            • Definitions

              • CAH is most common cause of disorder of sex development (DSD) in XX fetus (virilized XX)
                • Autosomal recessive disorder of cortisol production
                • Virilizing type &/or salt-wasting type

            IMAGING

            • Ultrasonographic Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Genetics and Other Causes

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Reporting Tips

                                    Selected References

                                    1. Smitthimedhin A et al: Normal size of the fetal adrenal gland on prenatal magnetic resonance imaging. Pediatr Radiol. 50(6):840-7, 2020
                                    2. Fuchs F et al: Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms. BJU Int. 124(5):876-82, 2019
                                    3. Simpson JL et al: Prenatal genetic testing and treatment for congenital adrenal hyperplasia. Fertil Steril. 111(1):21-3, 2019
                                    4. El-Maouche D et al: Congenital adrenal hyperplasia. Lancet. 390(10108):2194-210, 2017
                                    5. Heland S et al: Preventing female virilisation in congenital adrenal hyperplasia: the controversial role of antenatal dexamethasone. Aust N Z J Obstet Gynaecol. 56(3):225-32, 2016
                                    6. Khattab A et al: Noninvasive prenatal diagnosis of congenital adrenal hyperplasia. Endocr Dev. 30:37-41, 2016
                                    7. 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
                                    8. 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
                                    9. 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
                                    10. Maki E et al: Imaging and differential diagnosis of suprarenal masses in the fetus. J Ultrasound Med. 33(5):895-904, 2014
                                    11. 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
                                    12. Shorakae S et al: Congenital adrenal hyperplasia and pregnancy. BMJ Case Rep. 2013, 2013
                                    13. 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
                                    Loading...
                                    Related Differential Diagnoses
                                    Loading...
                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Clinical Issues

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Abbreviations

                                                • Congenital adrenal hyperplasia (CAH)
                                              • Synonyms

                                                • Clitoral hypertrophy = clitoromegaly
                                              • Definitions

                                                • CAH is most common cause of disorder of sex development (DSD) in XX fetus (virilized XX)
                                                  • Autosomal recessive disorder of cortisol production
                                                  • Virilizing type &/or salt-wasting type

                                              IMAGING

                                              • Ultrasonographic Findings

                                                • MR Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        • Genetics and Other Causes

                                                          CLINICAL ISSUES

                                                          • Presentation

                                                            • Demographics

                                                              • Natural History & Prognosis

                                                                • Treatment

                                                                  DIAGNOSTIC CHECKLIST

                                                                  • Consider

                                                                    • Reporting Tips

                                                                      Selected References

                                                                      1. Smitthimedhin A et al: Normal size of the fetal adrenal gland on prenatal magnetic resonance imaging. Pediatr Radiol. 50(6):840-7, 2020
                                                                      2. Fuchs F et al: Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms. BJU Int. 124(5):876-82, 2019
                                                                      3. Simpson JL et al: Prenatal genetic testing and treatment for congenital adrenal hyperplasia. Fertil Steril. 111(1):21-3, 2019
                                                                      4. El-Maouche D et al: Congenital adrenal hyperplasia. Lancet. 390(10108):2194-210, 2017
                                                                      5. Heland S et al: Preventing female virilisation in congenital adrenal hyperplasia: the controversial role of antenatal dexamethasone. Aust N Z J Obstet Gynaecol. 56(3):225-32, 2016
                                                                      6. Khattab A et al: Noninvasive prenatal diagnosis of congenital adrenal hyperplasia. Endocr Dev. 30:37-41, 2016
                                                                      7. 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
                                                                      8. 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
                                                                      9. 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
                                                                      10. Maki E et al: Imaging and differential diagnosis of suprarenal masses in the fetus. J Ultrasound Med. 33(5):895-904, 2014
                                                                      11. 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
                                                                      12. Shorakae S et al: Congenital adrenal hyperplasia and pregnancy. BMJ Case Rep. 2013, 2013
                                                                      13. 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