Congenital Adrenal Hyperplasia Differential Diagnoses

  • Author: Thomas A Wilson, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Sep 17, 2010
 
 

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Thomas A Wilson, MD  Professor of Clinical Pediatrics, Director of Pediatric Endocrinology, Department of Pediatrics, The School of Medicine at Stony Brook University Medical Center

Thomas A Wilson, MD is a member of the following medical societies: Endocrine Society, Lawson-Wilkins Pediatric Endocrine Society, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Arlan L Rosenbloom, MD  Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology

Arlan L Rosenbloom, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Epidemiology, American Pediatric Society, Endocrine Society, Florida Pediatric Society, Lawson-Wilkins Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

Barry B Bercu, MD  Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital

Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Federation for Clinical Research, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Lawson-Wilkins Pediatric Endocrine Society, Pituitary Society, Society for Pediatric Research, Society for the Study of Reproduction, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Merrily P M Poth, MD  Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences

Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD  Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas and Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research

Disclosure: Genentech, Inc. Honoraria Speaking and teaching; Pfizer, Inc. Honoraria Consulting

References

  1. Merke DP. Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. Mar 2008;93(3):653-60. [Medline].

  2. [Guideline] Torre JJ, Bloomgarden ZT, Dickey RA, et al. American Association of Clinical Endocrinologists Medical Guidelines for Clinical Practice for the diagnosis and treatment of hypertension. Endocr Pract. Mar-Apr 2006;12(2):193-222. [Medline].

  3. McKusick VA. Online Mendelian Inheritance in Man. National Center for Biotechnology Information. Available at http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim.

  4. Fluck CE, Tajima T, Pandey AV, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. Mar 2004;36(3):228-30. [Medline].

  5. New MI, Rapaport R. The adrenal cortex. In: Pediatric Endocrinology. Philadelphia, Pa:. WB Saunders;1996:287.

  6. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. Sep 2010;95(9):4133-60. [Medline].

  7. Gunther DF, Bukowski TP, Ritzen EM, et al. Prophylactic adrenalectomy of a three-year-old girl with congenital adrenal hyperplasia: pre- and postoperative studies. J Clin Endocrinol Metab. Oct 1997;82(10):3324-7. [Medline].

  8. Barone MA, ed. The Harriet Lane Handbook. St Louis, Mo: Mosby-Year Book; 1996:681.

  9. Vos AA, Bruinse HW. Congenital adrenal hyperplasia: do the benefits of prenatal treatment defeat the risks?. Obstet Gynecol Surv. Mar 2010;65(3):196-205. [Medline].

  10. Carlson AD, Obeid JS, Kanellopoulou N, et al. Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. J Steroid Biochem Mol Biol. Apr-Jun 1999;69(1-6):19-29. [Medline].

  11. Joint LWPES/ESPE CAH Working Group. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab. Sep 2002;87(9):4048-53. [Medline].

  12. White PC. Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol. Sep 2009;5(9):490-8. [Medline].

  13. Aycan Z, Akbuga S, Cetinkaya E, et al. Final height of patients with classical congenital adrenal hyperplasia. Turk J Pediatr. Nov-Dec 2009;51(6):539-44. [Medline].

  14. Garner PR. Congenital adrenal hyperplasia in pregnancy. Semin Perinatol. Dec 1998;22(6):446-56. [Medline].

  15. Green-Golan L, Yates C, Drinkard B, et al. Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glycemic control during prolonged moderate-intensity exercise. J Clin Endocrinol Metab. Aug 2007;92(8):3019-24. [Medline].

  16. Merke DP, Cutler GB Jr. New approaches to the treatment of congenital adrenal hyperplasia [clinical conference]. JAMA. Apr 2 1997;277(13):1073-6. [Medline].

  17. Miller WL. Congenital adrenal hyperplasia in the adult patient. Adv Intern Med. 1999;44:155-73. [Medline].

  18. Miller WL, Huang N, Pandey AV, et al. P450 oxidoreductase deficiency: a new disorder of steroidogenesis. Ann N Y Acad Sci. Dec 2005;1061:100-8. [Medline].

  19. Miller WL, Strauss JF 3rd. Molecular pathology and mechanism of action of the steroidogenic acute regulatory protein, StAR. J Steroid Biochem Mol Biol. Apr-Jun 1999;69(1-6):131-41. [Medline].

  20. New MI, Newfield RS. Congenital adrenal hyperplasia. Curr Ther Endocrinol Metab. 1997;6:179-87. [Medline].

  21. Newell-Price J, Whiteman M, Rostami-Hodjegan A, et al. Modified-release hydrocortisone for circadian therapy: a proof-of-principle study in dexamethasone-suppressed normal volunteers. Clin Endocrinol (Oxf). Jan 2008;68(1):130-5. [Medline].

  22. Pang S. Congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. Dec 1997;26(4):853-91. [Medline].

  23. Pang S. The molecular and clinical spectrum of 3 beta hydroxysteroid dehydrogenase deficiency disorder. Trend in Endocrinology and Metabolism. 1998;9(2):82-86.

  24. Perry R, Kecha O, Paquette J, et al. Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. J Clin Endocrinol Metab. Jun 2005;90(6):3243-50. [Medline].

  25. Purandare A, Godil MA, Prakash D, et al. Spontaneous adrenal hemorrhage associated with transient antiphospholipid antibody in a child. Clin Pediatr (Phila). Jun 2001;40(6):347-50. [Medline].

  26. Skinner CA, Rumsby G, Honour JW. Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene. J Clin Endocrinol Metab. Jun 1996;81(6):2389-93. [Medline].

  27. Speiser PW, White PC. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Clin Endocrinol (Oxf). Oct 1998;49(4):411-7. [Medline].

  28. Stratakis CA, Rennert OM. Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment. Crit Rev Clin Lab Sci. Aug 1999;36(4):329-63. [Medline].

  29. Wedell A. Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia. Clin Lab Med. Mar 1996;16(1):125-37. [Medline].

  30. White PC. Abnormalities of aldosterone synthesis and action in children. Curr Opin Pediatr. Aug 1997;9(4):424-30. [Medline].

 
Previous
Next
 
Enzymes and genes involved in adrenal steroidogenesis.
Steroidogenic pathway for cortisol, aldosterone, and sex steroid synthesis. A mutation or deletion of any of the genes that code for enzymes involved in cortisol or aldosterone synthesis results in congenital adrenal hyperplasia. The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the severity of the genetic deletion or mutation.
A female patient with the 46,XX karyotype with mild virilization due to congenital virilizing adrenal hyperplasia secondary to 21-hydroxylase deficiency. Despite the mild clitoromegaly, this patient has fusion of the labial-scrotal folds and salt wasting.
Severe virilization in a female patient with the 46,XX karyotype with congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. This patient also has salt wasting.
Short stature in a male patient with congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. His compliance with medical therapy was poor, and early growth and skeletal maturation was advanced, resulting in early puberty and completion of growth. This 12-year-old boy has reached final adult height, which is well below that of his mother.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.