eMedicine Specialties > Endocrinology > Adrenal Gland

C-17 Hydroxylase Deficiency: Multimedia

Author: Gabriel I Uwaifo, MBBS, Clinical and Research Attending, Assistant Professor of Medicine and Endocrinology, MedStar Clinical Research Center, MedStar Research Institute and Washington Hospital Center
Contributor Information and Disclosures

Updated: Jan 17, 2009

Multimedia

Generic adrenocortical steroidogenesis pathway.Media file 1: Generic adrenocortical steroidogenesis pathway.
Generic adrenocortical steroidogenesis pathway.

Generic adrenocortical steroidogenesis pathway.

Adrenal steroidogenesis pathway (same as syntheti...Media file 2: Adrenal steroidogenesis pathway (same as synthetic pathway in gonads).
Adrenal steroidogenesis pathway (same as syntheti...

Adrenal steroidogenesis pathway (same as synthetic pathway in gonads).

More on C-17 Hydroxylase Deficiency

Overview: C-17 Hydroxylase Deficiency
Differential Diagnoses & Workup: C-17 Hydroxylase Deficiency
Treatment & Medication: C-17 Hydroxylase Deficiency
Follow-up: C-17 Hydroxylase Deficiency
Multimedia: C-17 Hydroxylase Deficiency
References
Further Reading

References

  1. Zachmann M, Vollmin JA, Hamilton W, et al. Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism. Clin Endocrinol (Oxf). Oct 1972;1(4):369-85. [Medline].

  2. Zachmann M, Werder EA, Prader A. Two types of male pseudohermaphroditism due to 17, 20-desmolase deficiency. J Clin Endocrinol Metab. Sep 1982;55(3):487-90. [Medline].

  3. Arlt W, Walker EA, Draper N, et al. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study. Lancet. Jun 26 2004;363(9427):2128-35. [Medline].

  4. Auchus RJ. The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinol Metab Clin North Am. Mar 2001;30(1):101-19, vii. [Medline].

  5. Winter JS, Couch RM, Muller J. Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17. J Clin Endocrinol Metab. Feb 1989;68(2):309-16. [Medline].

  6. 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. Feb 2008;21(2):185-90. [Medline].

  7. Shackleton CH, Neres MS, Hughes BA, et al. 17-hydroxylase/C17,20-lyase (CYP17) is not the enzyme responsible for side-chain cleavage of cortisol and its metabolites. Steroids. Jul 2008;73(6):652-6. [Medline].

  8. Lin D, Black SM, Nagahama Y. Steroid 17 alpha-hydroxylase and 17,20-lyase activities of P450c17: contributions of serine106 and P450 reductase. Endocrinology. Jun 1993;132(6):2498-506. [Medline][Full Text].

  9. Zhang LH, Rodriguez H, Ohno S. Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome. Proc Natl Acad Sci U S A. Nov 7 1995;92(23):10619-23. [Medline][Full Text].

  10. Geller DH, Auchus RJ, Mendonca BB. The genetic and functional basis of isolated 17,20-lyase deficiency. Nat Genet. Oct 1997;17(2):201-5. [Medline].

  11. Benetti-Pinto CL, Vale D, Garmes H, et al. 17-hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: laboratory and molecular diagnosis--a case report. Gynecol Endocrinol. Feb 2007;23(2):94-8. [Medline].

  12. Moran C, Knochenhauer ES, Azziz R. Non-classic adrenal hyperplasia in hyperandrogenism: a reappraisal. J Endocrinol Invest. Nov 1998;21(10):707-20. [Medline].

  13. Won GS, Chiu CY, Tso YC, et al. A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia. Metabolism. Apr 2007;56(4):504-7. [Medline].

  14. Wit JM, van Roermund HP, Oostdijk W. Heterozygotes for 17 alpha-hydroxylase deficiency can be detected with a short ACTH test. Clin Endocrinol (Oxf). Jun 1988;28(6):657-64. [Medline].

  15. German A, Suraiya S, Tenenbaum-Rakover Y, et al. Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy. J Clin Endocrinol Metab. Dec 2008;93(12):4707-10. [Medline].

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

  17. Arlt W, Callies F, van Vlijmen JC. Dehydroepiandrosterone replacement in women with adrenal insufficiency. N Engl J Med. Sep 30 1999;341(14):1013-20. [Medline][Full Text].

  18. Callies F, Fassnacht M, van Vlijmen JC. Dehydroepiandrosterone replacement in women with adrenal insufficiency: effects on body composition, serum leptin, bone turnover, and exercise capacity. J Clin Endocrinol Metab. May 2001;86(5):1968-72. [Medline][Full Text].

  19. Meyer-Bahlburg HF. What causes low rates of child-bearing in congenital adrenal hyperplasia?. J Clin Endocrinol Metab. Jun 1999;84(6):1844-7. [Medline][Full Text].

  20. Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man. J Clin Invest. Dec 1966;45(12):1946-54. [Medline][Full Text].

  21. Biglieri EG, Kater CE. 17 alpha-hydroxylation deficiency. Endocrinol Metab Clin North Am. Jun 1991;20(2):257-68. [Medline].

  22. Costa-Santos M, Kater CE, Auchus RJ. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab. Jan 2004;89(1):49-60. [Medline][Full Text].

  23. 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].

  24. Kater CE, Biglieri EG. Disorders of steroid 17 alpha-hydroxylase deficiency. Endocrinol Metab Clin North Am. Jun 1994;23(2):341-57. [Medline].

  25. Mantero F, Opocher G, Rocco S. Long-term treatment of mineralocorticoid excess syndromes. Steroids. Jan 1995;60(1):81-6. [Medline].

  26. Miller WL. Early steps in androgen biosynthesis: from cholesterol to DHEA. Baillieres Clin Endocrinol Metab. Apr 1998;12(1):67-81. [Medline].

  27. New MI, Newfield RS. Congenital adrenal hyperplasia. In: Bardin CW. Current Therapy in Endocrinology and Metabolism. 6th ed. St Louis, Mo: Mosby-Yearbook; 1997:179-87.

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

  29. Pang S, Shook MK. Current status of neonatal screening for congenital adrenal hyperplasia. Curr Opin Pediatr. Aug 1997;9(4):419-23. [Medline].

  30. 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].

  31. Winter JS. Clinical, biochemical and molecular aspects of 17-hydroxylase deficiency. Endocr Res. 1991;17(1-2):53-62. [Medline].

  32. Yanase T. 17 alpha-hydroxylase/17,20-lyase defects. J Steroid Biochem Mol Biol. Jun 1995;53(1-6):153-7. [Medline].

  33. Yanase T, Simpson ER, Waterman MR. 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev. Feb 1991;12(1):91-108. [Medline].

Further Reading

Related eMedicine topics:
17-Hydroxylase Deficiency Syndrome
C-11 Hydroxylase Deficiency
Congenital Adrenal Hyperplasia
Hypertension [Nephrology]
Hypertension [Pediatrics: Cardiac Disease and Critical Care Medicine]
Hypokalemia [Emergency Medicine]
Hypokalemia [Nephrology]
Hypokalemia [Pediatrics: Cardiac Disease and Critical Care Medicine]

Keywords

C-17 hydroxylase deficiencyhypertension, estrogen, cortisol, adrenal, androgen, hypokalemia, aldosterone, ACTH, renin, adrenal glands, adrenal hyperplasia, congenital adrenal hyperplasia, androgens, congenital hyperplasia, glucocorticoid, glucocorticoids, mineralocorticoid, estrogens, adrenocorticotropic hormone, corticosterone, pseudohermaphroditism, CAH, deoxycorticosterone, sexual infantilism, CYP17, gonadal steroidogenesis, 17-alpha hydroxylase deficiency

Contributor Information and Disclosures

Author

Gabriel I Uwaifo, MBBS, Clinical and Research Attending, Assistant Professor of Medicine and Endocrinology, MedStar Clinical Research Center, MedStar Research Institute and Washington Hospital Center
Gabriel I Uwaifo, MBBS is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Medical Association, American Society of Hypertension, and Endocrine Society
Disclosure: Nothing to disclose.

Medical Editor

Ghassem Pourmotabbed, MD†, Former Associate Professor, Department of Internal Medicine, Division of Endocrinology and Metabolism, University of Tennessee School of Medicine and Health Science Center
Ghassem Pourmotabbed, MD† is a member of the following medical societies: American Diabetes Association, American Federation for Medical Research, and Endocrine Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS, Professor of Medicine (Endocrinology, Adj), Johns Hopkins School of Medicine; Affiliate Research Professor, Bioinformatics and Computational Biology Program, School of Computational Sciences, George Mason University; Principal, C/A Informatics, LLC
Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Endocrinology, American College of Nutrition, American College of Physician Executives, American College of Physicians, American College of Physicians-American Society of Internal Medicine, American Medical Informatics Association, American Society for Bone and Mineral Research, American Society of Law Medicine and Ethics, Endocrine Society, and International Society for Clinical Densitometry
Disclosure: Nothing to disclose.

CME Editor

Mark Cooper, MBBS, PhD, FRACP, Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation
Disclosure: Nothing to disclose.

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