Merke DP. Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2008 Mar. 93(3):653-60. [QxMD MEDLINE Link].
Turcu AF, Auchus RJ. The next 150 years of congenital adrenal hyperplasia. J Steroid Biochem Mol Biol. 2015 Sep. 153:63-71. [QxMD MEDLINE Link]. [Full Text].
Turcu AF, Auchus RJ. Adrenal steroidogenesis and congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2015 Jun. 44 (2):275-96. [QxMD MEDLINE Link]. [Full Text].
Witchel SF. Nonclassic congenital adrenal hyperplasia. Curr Opin Endocrinol Diabetes Obes. 2012 Jun. 19(3):151-8. [QxMD MEDLINE Link].
New MI, Rapaport R. The adrenal cortex. In: Pediatric Endocrinology. Philadelphia, Pa:. WB Saunders. 1996:287.
Purandare A, Godil MA, Prakash D, et al. Spontaneous adrenal hemorrhage associated with transient antiphospholipid antibody in a child. Clin Pediatr (Phila). 2001 Jun. 40(6):347-50. [QxMD MEDLINE Link].
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. 2010 Sep. 95(9):4133-60. [QxMD MEDLINE Link].
Poppas DP. Clitoroplasty in congenital adrenal hyperplasia: description of technique. Adv Exp Med Biol. 2011. 707:49-50. [QxMD MEDLINE Link].
Halper A, Sanchez B, Hodges JS, et al. Bone mineral density and body composition in children with congenital adrenal hyperplasia. Clin Endocrinol (Oxf). 2018 Feb 20. [QxMD MEDLINE Link].
Yang M, White PC. Risk factors for hospitalization of children with congenital adrenal hyperplasia. Clin Endocrinol (Oxf). 2017 Feb 13. [QxMD MEDLINE Link].
Herting MM, Azad A, Kim R, Tyszka JM, Geffner ME, Kim MS. Brain Differences in the Prefrontal Cortex, Amygdala, and Hippocampus in Youth with Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. 2020 Apr 1. 105 (4):[QxMD MEDLINE Link].
Lim SG, Lee YA, Jang HN, et al. Long-Term Health Outcomes of Korean Adults With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. Front Endocrinol (Lausanne). 2021. 12:761258. [QxMD MEDLINE Link]. [Full Text].
[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. 2006 Mar-Apr. 12(2):193-222. [QxMD MEDLINE Link].
Carvalho LC, Brito VN, Martin RM, et al. Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects. Fertil Steril. 2016 Jun. 105 (6):1612-9. [QxMD MEDLINE Link].
Auchus RJ. The backdoor pathway to dihydrotestosterone. Trends Endocrinol Metab. 2004 Nov. 15(9):432-8. [QxMD MEDLINE Link].
Kamrath C, Hochberg Z, Hartmann MF, Remer T, Wudy SA. Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis. J Clin Endocrinol Metab. 2012 Mar. 97(3):E367-75. [QxMD MEDLINE Link].
Auchus RJ, Miller WL. Congenital adrenal hyperplasia--more dogma bites the dust. J Clin Endocrinol Metab. 2012 Mar. 97(3):772-5. [QxMD MEDLINE Link].
McKusick VA. Online Mendelian Inheritance in Man. National Center for Biotechnology Information. Available at http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim.
Fluck CE, Tajima T, Pandey AV, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar. 36(3):228-30. [QxMD MEDLINE Link].
Longui CA, Kochi C, Calliari LE, Modkovski MB, Soares M, Alves EF, et al. Near-final height in patients with congenital adrenal hyperplasia treated with combined therapy using GH and GnRHa. Arq Bras Endocrinol Metabol. 2011 Nov. 55(8):661-4. [QxMD MEDLINE Link].
Lin-Su K, Harbison MD, Lekarev O, Vogiatzi MG, New MI. Final adult height in children with congenital adrenal hyperplasia treated with growth hormone. J Clin Endocrinol Metab. 2011 Jun. 96(6):1710-7. [QxMD MEDLINE Link]. [Full Text].
Roth JD, Casey JT, Whittam BM, et al. Characteristics of Female Genital Restoration Surgery for Congenital Adrenal Hyperplasia Using a Large Scale Administrative Database. Urology. 2018 Mar 2. [QxMD MEDLINE Link].
Dangle PP, Lee A, Chaudhry R, Schneck FX. Surgical Complications Following Early Genitourinary Reconstructive Surgery for Congenital Adrenal Hyperplasia-Interim Analysis at 6 Years. Urology. 2016 Nov 23. [QxMD MEDLINE Link].
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. 1997 Oct. 82(10):3324-7. [QxMD MEDLINE Link].
Maccabee-Ryaboy N, Thomas W, Kyllo J, et al. Hypertension in children with congenital adrenal hyperplasia. Clin Endocrinol (Oxf). 2016 Apr 22. [QxMD MEDLINE Link].
Aycan Z, Akbuga S, Cetinkaya E, et al. Final height of patients with classical congenital adrenal hyperplasia. Turk J Pediatr. 2009 Nov-Dec. 51(6):539-44. [QxMD MEDLINE Link].
Riehl G, Reisch N, Roehle R, Claahsen van der Grinten H, Falhammar H, Quinkler M. Bone mineral density and fractures in congenital adrenal hyperplasia: Findings from the dsd-LIFE study. Clin Endocrinol (Oxf). 2020 Apr. 92 (4):284-94. [QxMD MEDLINE Link]. [Full Text].
Garner PR. Congenital adrenal hyperplasia in pregnancy. Semin Perinatol. 1998 Dec. 22(6):446-56. [QxMD MEDLINE Link].
Vos AA, Bruinse HW. Congenital adrenal hyperplasia: do the benefits of prenatal treatment defeat the risks?. Obstet Gynecol Surv. 2010 Mar. 65(3):196-205. [QxMD MEDLINE Link].
Carlson AD, Obeid JS, Kanellopoulou N, et al. Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. J Steroid Biochem Mol Biol. 1999 Apr-Jun. 69(1-6):19-29. [QxMD MEDLINE Link].
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. 2002 Sep. 87(9):4048-53. [QxMD MEDLINE Link].
Meyer-Bahlburg HF, Dolezal C, Haggerty R, Silverman M, New M. Cognitive Outcome of Offspring from Dexamethasone-Treated Pregnancies at Risk for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. Eur J Endocrinol. 2012 May 1. [QxMD MEDLINE Link].
Hirvikoski T, Nordenstrom A, Wedell A, Ritzen M, Lajic S. Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint. J Clin Endocrinol Metab. 2012 Jun. 97 (6):1881-3. [QxMD MEDLINE Link].
White PC. Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol. 2009 Sep. 5(9):490-8. [QxMD MEDLINE Link].
Janzen N, Riepe FG, Peter M, Sander S, Steuerwald U, Korsch E, et al. Neonatal screening: identification of children with 11ß-hydroxylase deficiency by second-tier testing. Horm Res Paediatr. 2012. 77(3):195-9. [QxMD MEDLINE Link].
Barone MA, ed. The Harriet Lane Handbook. St Louis, Mo: Mosby-Year Book; 1996. 681.
Chan LF, Campbell DC, Novoselova TV, Clark AJ, Metherell LA. Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children. Front Endocrinol (Lausanne). 2015. 6:113. [QxMD MEDLINE Link].
Held PK, Shapira SK, Hinton CF, Jones E, Hannon WH, Ojodu J. Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states. Mol Genet Metab. 2015 Nov. 116 (3):133-8. [QxMD MEDLINE Link].
Yau M, Vogiatzi M, Lewkowitz-Shpuntoff A, Nimkarn S, Lin-Su K. Health-Related Quality of Life in Children with Congenital Adrenal Hyperplasia. Horm Res Paediatr. 2015. 84 (3):165-71. [QxMD MEDLINE Link].
Bello R, Lebenthal Y, Lazar L, et al. Basal 17-hydroxyprogesterone cannot accurately predict nonclassical congenital adrenal hyperplasia in children and adolescents. Acta Paediatr. 2017 Jan. 106 (1):155-60. [QxMD MEDLINE Link].

Media Gallery

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.

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Author

Thomas A Wilson, MD Professor of Clinical Pediatrics, Chief and Program Director, Division 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, Pediatric Endocrine Society, Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

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 Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Pediatric Endocrine Society, Society for Pediatric Research, Southern Society for Pediatric Research, Society for the Study of Reproduction, American Federation for Clinical Research, Pituitary Society

Disclosure: Nothing to disclose.

Chief Editor

Sasigarn A Bowden, MD, FAAP Professor of Pediatrics, Section of Pediatric Endocrinology, Metabolism and Diabetes, Department of Pediatrics, Ohio State University College of Medicine; Pediatric Endocrinologist, Division of Endocrinology, Nationwide Children’s Hospital; Affiliate Faculty/Principal Investigator, Center for Clinical Translational Research, Research Institute at Nationwide Children’s Hospital

Sasigarn A Bowden, MD, FAAP is a member of the following medical societies: American Society for Bone and Mineral Research, Central Ohio Pediatric Society, Endocrine Society, International Society for Pediatric and Adolescent Diabetes, Pediatric Endocrine Society, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

Arlan L Rosenbloom, MD Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida College of Medicine; 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, Pediatric Endocrine Society, Society for Pediatric Research, Florida Chapter of The American Academy of Pediatrics, Florida Pediatric Society, International Society for Pediatric and Adolescent Diabetes

Disclosure: Nothing to disclose.

Sections Congenital Adrenal Hyperplasia
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