17-Hydroxylase Deficiency Syndrome Follow-up
- Author: J Paul Frindik, MD, FACE; Chief Editor: Stephen Kemp, MD, PhD more...
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 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. Fertility may be impaired in both male and female patients with severe deficiency.
Corticosterone has some glucocorticoid activity; and elevated levels (ie, 50-100 times normal) are adequate to prevent adrenal insufficiency. Thus, these patients do not have hypoglycemia, hypotension, or difficulties dealing with infections, stress, or surgical procedures. These patients also experience no virilization or accelerated prepubertal growth as is typical in more common types of CAH that result from lack of sex steroids.
Most patients have some degree of hypokalemia and hypertension; blood pressure elevations range from mild to severe. Although 10-15% may have no hypertension or hypokalemia at presentation, patients may present with malignant hypertension or with severe, symptomatic hypokalemia. Hypertension sometimes may persist for months to years in older or more severely affected individuals, necessitating additional antihypertension therapy.
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