Medication Summary

Exogenous glucocorticoid therapy suppresses adrenocorticotropic hormone (ACTH) secretion, decreases 11-DOC and corticosterone levels, and normalizes serum potassium and BP. Hydrocortisone is the drug of choice for infants and children. Longer-acting preparations (eg, prednisone, dexamethasone) are difficult to titrate and can lead to overtreatment and growth suppression.

Class Summary

Exogenous glucocorticoid therapy suppresses adrenocorticotropic hormone (ACTH) secretion, decreases 11-deoxycorticosterone (11-DOC) and corticosterone levels, and normalizes serum K levels and blood pressure. Patients tend to respond to smaller doses of glucocorticoids than those required in other forms of congenital adrenal hyperplasia, possibly due to the glucocorticoid activity of endogenous corticosterone. Dosages are somewhat empirical and must be individualized based on clinical findings, growth, skeletal maturation, and hormonal data, including monitoring of 11-DOC and corticosterone levels.

Hydrocortisone (Hydrocortone, A-Hydrocort)

View full drug information

Hydrocortisone is the drug of choice for infants and children. Longer-acting preparations (eg, prednisone, dexamethasone) are difficult to titrate and can lead to overtreatment and growth suppression.

National Institutes of Health. CYP17A1 gene. US National Library of Medicine. Available at https://medlineplus.gov/genetics/gene/cyp17a1/. August 18, 2020; Accessed: March 15, 2021.
Auchus RJ, Gupta MK. Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyasedeficiency. Endocr Res. 2002 Nov. 28(4):443-7. [QxMD MEDLINE Link].
Rosa S, Duff C, Meyer M, et al. P450c17 deficiency: clinical and molecular characterization of six patients. J Clin Endocrinol Metab. 2007 Mar. 92(3):1000-7. [QxMD MEDLINE Link].
Tian Q, Zhang Y, Lu Z. Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases. Gynecol Endocrinol. 2008 Jul. 24(7):362-7. [QxMD MEDLINE Link].
Bhangoo A, Aisenberg J, Chartoffe A, et al. Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency. J Pediatr Endocrinol Metab. 2008 Feb. 21(2):185-90. [QxMD MEDLINE Link].
Krone N, Arlt W. Genetics of congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009 Apr. 23(2):181-92. [QxMD MEDLINE Link].
Bao X, Ding H, Xu Y, et al. Prevalence of common mutations in the CYP17A1 gene in Chinese Han population. Clin Chim Acta. 2011 Jun 11. 412(13-14):1240-3. [QxMD MEDLINE Link].
Tian Q, Yao F, Zhang Y, Tseng H, Lang J. Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency. Gynecol Endocrinol. 2012 Mar. 28(3):234-8. [QxMD MEDLINE Link].
Costa-Santos M, Kater CE, Auchus RJ, Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab. 2004 Jan. 89 (1):49-60. [QxMD MEDLINE Link]. [Full Text].
Kim YM, Kang M, Choi JH, et al. A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation. Metabolism. 2014 Jan. 63(1):42-9. [QxMD MEDLINE Link].
Zhang M, Sun S, Liu Y, et al. New, recurrent, and prevalent mutations: clinical and molecular characterization of 26 Chinese patients with 17alpha-hydroxylase/17,20-lyase deficiency. J Steroid Biochem Mol Biol. 2015 Jun. 150:11-6. [QxMD MEDLINE Link].
Wang M, Wang H, Zhao H, et al. Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population. Clin Hypertens. 2019. 25:23. [QxMD MEDLINE Link]. [Full Text].
Fluck CE, Pandey AV, Huang N, et al. P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. Endocr Dev. 2008. 13:67-81. [QxMD MEDLINE Link].
Scott RR, Miller WL. Genetic and clinical features of p450 oxidoreductase deficiency. Horm Res. 2008. 69(5):266-75. [QxMD MEDLINE Link].
Arlt W. P450 oxidoreductase deficiency and Antley-Bixler syndrome. Rev Endocr Metab Disord. 2007 Dec. 8(4):301-7. [QxMD MEDLINE Link].
Fukami M, Horikawa R, Nagai T, et al. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab. 2005 Jan. 90(1):414-26. [QxMD MEDLINE Link]. [Full Text].
Fan YS, Sasi R, Lee C, Winter JS, Waterman MR, Lin CC. Localization of the human CYP17 gene (cytochrome P450(17 alpha)) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding. Genomics. 1992 Dec. 14(4):1110-1. [QxMD MEDLINE Link].
Chormanski D, Muzio MR. C 17 hydroxylase deficiency. StatPearls [Internet]. 2021 Jan. [QxMD MEDLINE Link]. [Full Text].
Imai T, Yanase T, Waterman MR, et al. Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency. Hum Genet. 1992 Apr. 89(1):95-6. [QxMD MEDLINE Link].
Xu S, Hu S, Yu X, Zhang M, Yang Y. 17α‑hydroxylase/17,20‑lyase deficiency in congenital adrenal hyperplasia: A case report. Mol Med Rep. 2017 Jan. 15(1):339-344. [QxMD MEDLINE Link]. [Full Text].
National Institutes of Health. 17 alpha-hydroxylase/17,20-lyase deficiency. US National Library of Medicine. Available at https://ghr.nlm.nih.gov/condition/17-alpha-hydroxylase-17-20-lyase-deficiency#statistics. March 2016; Accessed: October 12, 2017.
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].
Auchus RJ. The classic and nonclassic concenital adrenal hyperplasias. Endocr Pract. 2015 Apr. 21 (4):383-9. [QxMD MEDLINE Link].
Kandemir N, Yordam N. Congenital adrenal hyperplasia in Turkey: a review of 273 patients. Acta Paediatr. 1997 Jan. 86(1):22-5. [QxMD MEDLINE Link].
Rosado A, Alegre M, Colon G. [Male pseudohermaphroditism caused by enzymatic deficiency of 17-alpha- hydroxylase. 1st case reported in Puerto Rico]. Bol Asoc Med P R. 1997 Oct-Dec. 89(10-12):197-9. [QxMD MEDLINE Link].
Aydin Z, Ozturk S, Gursu M, Uzun S, Karadag S, Kazancioglu R. Male pseudohermaphroditism as a cause of secondary hypertension: a case report. Endocrine. 2010 Aug. 38(1):100-3. [QxMD MEDLINE Link].
Marsh CA, Auchus RJ. Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency. Fertil Steril. 2014 Feb. 101(2):317-22. [QxMD MEDLINE Link]. [Full Text].
Bianchi PH, Gouveia GR, Costa EM, et al. Successful live birth in a woman with 17α-hydroxylase deficiency through IVF frozen-thawed embryo transfer. J Clin Endocrinol Metab. 2016 Feb. 101(2):345-8. [QxMD MEDLINE Link]. [Full Text].
Yang W, Zhang T, Zhou L, et al. A successful live birth from a 17α-hydroxylase/17,20-lyase deficiency mother by the in vitro fertilization frozen-thawed embryo transfer. Int J Clin Exp Me. 2017 Aug 30. 10(8):12705-11. [Full Text].
Philip J, Anjali N, Thomas S, et al. 17-Alpha hydroxylase deficiency: an unusual cause of secondary amenorrhoea. Aust N Z J Obstet Gynaecol. 2004 Oct. 44(5):477-8. [QxMD MEDLINE Link].
Hershkovitz E, Parvari R, Wudy SA, et al. Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. J Clin Endocrinol Metab. 2008 Sep. 93(9):3584-8. [QxMD MEDLINE Link]. [Full Text].
Auchus RJ. Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. J Steroid Biochem Mol Biol. 2017 Jan. 165(Pt A):71-8. [QxMD MEDLINE Link]. [Full Text].
Reisch N, Idkowiak J, Hughes BA, et al. Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency. J Clin Endocrinol Metab. 2013 Mar. 98(3):E528-36. [QxMD MEDLINE Link]. [Full Text].
Monig H, Sippell W. Congenital adrenal hyperplasia in adulthood: do men need to continue treatment?. Horm Res. 2005. 64 Suppl 2:71-3. [QxMD MEDLINE Link].
Ross RJ, Rostami-Hodjegan A. Timing and type of glucocorticoid replacement in adult congenital adrenal hyperplasia. Horm Res. 2005. 64 Suppl 2:67-70. [QxMD MEDLINE Link].

Media Gallery

17-Hydroxylase Deficiency Syndrome. Normal adrenal steroid biosynthesis results in three products: mineralocorticoids (aldosterone), glucocorticoids (cortisol), and androgens (androstenedione). Cortisol production is regulated by feedback with adrenocorticotropic hormone (ACTH). ACTH stimulates the enzyme P-450scc (20,22 desmolase), with subsequently increased production of all adrenal steroids.
17-Hydroxylase Deficiency Syndrome. Representation of typical congenital adrenal hyperplasia (CAH). This example shows a deficiency in both the mineralocorticoid and glucocorticoid pathways. Decreased serum cortisol levels stimulate adrenocorticotropic hormone (ACTH) release via negative feedback. Increased ACTH secretion causes overproduction of adrenal steroids preceding the missing enzyme as well as those not requiring the missing enzyme. The example depicts a deficiency of 21-hydroxylase, resulting in deficient mineralocorticoid and glucocorticoid production and excessive androgen production.
17-Hydroxylase Deficiency Syndrome. C-17α-hydroxylase is necessary to convert pregnenolone to 17-hydroxypregnenolone (17-OH Preg) and progesterone to 17-hydroxyprogesterone (17-OH Prog). Absence of C-17α-hydroxylase impairs all sex steroid and cortisol production. Low levels of cortisol result in increased adrenocorticotropic hormone (ACTH) stimulation of steroids prior to the 17-hydroxylase step, resulting in increased accumulation and secretion of 17-deoxysteroids by the zona fasciculata, including pregnenolone, progesterone, deoxycorticosterone (DOC), and corticosterone.
17-Hydroxylase Deficiency Syndrome. Graphic illustration of deficiency. Absence of C-17α-hydroxylase impairs all sex steroid and cortisol production.