eMedicine Specialties > Pediatrics: General Medicine > Endocrinology

17-Hydroxylase Deficiency Syndrome: Follow-up

Author: J Paul Frindik, MD, FACE, Associate Professor, Department of Pediatrics, University of Arkansas for Medical Sciences
Contributor Information and Disclosures

Updated: Sep 24, 2008

Follow-up

Further Outpatient Care

  • Evaluate infants and young children every 3-4 months for height, weight, blood pressure, and concurrent laboratory monitoring of 11-deoxycorticosterone (11-DOC) and corticosterone levels.
  • A radiograph of the left hand may be obtained yearly to evaluate skeletal maturation.
  • Adjust hydrocortisone dosages on an individual basis, determined by the results of the physical examination and laboratory studies.
  • Sex hormone replacement is required at the age of expected puberty. The mean age for the appearance of secondary sexual characteristics in the general population is 11.5-12 years for males and 10.5 years for females. Start testosterone or estrogen administration at low doses and gradually increase as the child ages and matures.

Inpatient & Outpatient Medications

  • 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.

Prognosis

  • Prognosis is usually good-to-excellent with adequate glucocorticoid therapy and monitoring.
  • Patients rarely, if ever, have adrenal crises.
  • Sex steroid replacement promotes development of secondary sexual characteristics in both sexes and cyclic menstrual bleeding in females.
  • Hypertension sometimes may persist for months to years in older or more severely affected individuals, necessitating additional antihypertension therapy.

Patient Education

Miscellaneous

Medicolegal Pitfalls

Difficulties may arise when this relatively rare diagnosis is not considered, as in the following examples:

  • Most patients with 17-hydroxylase (17-OH) deficiency syndrome have some degree of hypertension. Appropriate treatment primarily consists of exogenous glucocorticoid therapy; only more severely affected individuals require antihypertension medications. Failure to reach the proper diagnosis in such a patient may lead to inappropriate or incomplete treatment of the hypertension.
  • Because patients may appear normal at birth and throughout childhood, female patients may not be diagnosed until they present at a later age with delayed puberty or amenorrhea. Appropriate treatment consists of exogenous sex steroid replacement plus glucocorticoid therapy. Failure to distinguish between 17-hydroxylase deficiency syndrome and other, more common causes of delayed puberty may lead to incomplete treatment.

Special Concerns

  • Patients with P450 oxidoreductase (POR) deficiency: Because these patients can present with multiple clinical manifestations and have defects in various steroidogenic enzymes, they may be mistakenly diagnosed.12 Differentiating 17-hydroxylase deficiency syndrome from POR deficiency is important because patients with POR deficiency have the additional potential for adrenal insufficiency.5,6  POR should be suspected in patients with adrenal insufficiency and genital anomalies who have associated skeletal malformations.    
  • Adults with 17-hydroxylase deficiency
    • Although extensive literature and experience regarding treatment of pediatric patients is available, little has been published regarding treatment of adults with congenital adrenal hormone deficiencies. Certainly, no consensus or published guidelines are available regarding types, dosages, or timing of steroid replacement in adult patients.13,14
    • One survey in the United Kingdom demonstrated that the most widely used glucocorticoid in adult patients was hydrocortisone, followed by dexamethasone and prednisolone. Sixty percent of physicians surveyed used larger doses of glucocorticoids at night (reverse circadian pattern) to achieve adrenocorticotropic hormone (ACTH) suppression, and only 16% of treating physicians used body weight or surface area to determine dosage.
    • Adult patients must be continuously and carefully treated, using body size or weight-related dosages (in a manner analogous to pediatric treatment) to avoid extremes of overtreatment and undertreatment.
 


More on 17-Hydroxylase Deficiency Syndrome

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

  1. Auchus RJ, Gupta MK. Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyasedeficiency. Endocr Res. Nov 2002;28(4):443-7. [Medline].

  2. Rosa S, Duff C, Meyer M, et al. P450c17 deficiency: clinical and molecular characterization of six patients. J Clin Endocrinol Metab. Mar 2007;92(3):1000-7. [Medline].

  3. Tian Q, Zhang Y, Lu Z. Partial 17alpha-hydroxylase/17,20-lyase deficiency-clinical report of five Chinese 46,XX cases. Gynecol Endocrinol. Jul 2008;24(7):362-7. [Medline].

  4. 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].

  5. Fluck CE, Pandey AV, Huang N, et al. P450 oxidoreductase deficiency - a new form of congenital adrenal hyperplasia. Endocr Dev. 2008;13:67-81. [Medline].

  6. Scott RR, Miller WL. Genetic and clinical features of p450 oxidoreductase deficiency. Horm Res. 2008;69(5):266-75. [Medline].

  7. 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. Jan 2004;89(1):49-60. [Medline]. [Full Text].

  8. Kandemir N, Yordam N. Congenital adrenal hyperplasia in Turkey: a review of 273 patients. Acta Paediatr. Jan 1997;86(1):22-5. [Medline].

  9. 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. Oct-Dec 1997;89(10-12):197-9. [Medline].

  10. Philip J, Anjali N, Thomas S, et al. 17-Alpha hydroxylase deficiency: an unusual cause of secondary amenorrhoea. Aust N Z J Obstet Gynaecol. Oct 2004;44(5):477-8. [Medline].

  11. 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. Apr 1992;89(1):95-6. [Medline].

  12. 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. Sep 2008;93(9):3584-8. [Medline].

  13. Monig H, Sippell W. Congenital adrenal hyperplasia in adulthood: do men need to continue treatment?. Horm Res. 2005;64 Suppl 2:71-3. [Medline].

  14. Ross RJ, Rostami-Hodjegan A. Timing and type of glucocorticoid replacement in adult congenital adrenal hyperplasia. Horm Res. 2005;64 Suppl 2:67-70. [Medline].

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

  16. Ducharme JR, Forest MG. Normal pubertal development. In: Pediatric Endocrinology: Physiology, Pathophysiology & Clinical Aspects. 2nd ed. 1993:372-86.

  17. Forest MG, Lecornu M, de Peretti E. Familial male pseudohermaphroditism due to 17-20-desmolase deficiency. I. In vivo endocrine studies. J Clin Endocrinol Metab. May 1980;50(5):826-33. [Medline].

  18. Grumbach MM, Conte FA. Disorders of sex differentiation. In: Williams Textbook of Endocrinology. 8th ed. 1992:853-951.

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

  20. Orth DN, Kovacs WJ, Debold CR. The adrenal cortex. In: Williams Textbook of Endocrinology. 8th ed. 1992:489-619.

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Further Reading

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Keywords

17-hydroxylase deficiency, P-450c17 hydroxylase deficiency, 17-alpha-hydroxylase deficiency, 17-OH, 17-OH deficiency, ambiguous genitalia, hypertension, hypokalemia, delayed puberty, absent secondary sexual characteristics, primary amenorrhea, congential adrenal hyperplasia, hypogonadism, 21-hydroxylase deficiency, adrenal insufficiency, craniosynostosis, radio-ulnar synostosis, midface hypoplasia, bowed femurs

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Contributor Information and Disclosures

Author

J Paul Frindik, MD, FACE, Associate Professor, Department of Pediatrics, University of Arkansas for Medical Sciences
J Paul Frindik, MD, FACE is a member of the following medical societies: American Association of Clinical Endocrinologists
Disclosure: Nothing to disclose.

Medical Editor

Erawati V Bawle, MD, FAAP, FACMG, Director, Division of Genetic and Metabolic Disorders, Department of Pediatrics, Children's Hospital of Michigan; Professor (Clinician-Educator), Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

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.

CME Editor

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; Pfiser, Inc. Honoraria Consulting

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