3-Beta-Hydroxysteroid Dehydrogenase Deficiency Medication

Updated: Jun 16, 2016
  • Author: J Paul Frindik, MD, FACE; Chief Editor: Stephen Kemp, MD, PhD  more...
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Medication

Medication Summary

Patients with classic salt-losing 3-beta–hydroxysteroid dehydrogenase require replacement of glucocorticoids, mineralocorticoids, and sex steroids.

For late-onset (nonclassic) 3-beta–hydroxysteroid dehydrogenase deficiency, the need for replacement therapy varies, depending on the severity of the defect. Hydrocortisone (or other glucocorticoid) replacement suppresses excess androgens in children with premature pubarche and may correct menstrual irregularities and decrease hirsutism and acne in pubertal and postpubertal females.

Approximately 15 mg/m2/d of oral hydrocortisone divided 3 times daily may be used as an initial dose. Hydrocortisone is the drug of choice in infants and children. Longer-acting preparations, such as prednisone and dexamethasone, are difficult to titrate and can lead to overtreatment and growth suppression. Fludrocortisone acetate, 50 mcg (newborns and infants) to 200 mcg (older children) per day, is also required in patients with salt-losing variants of 3-beta–hydroxysteroid dehydrogenase deficiency. Adjust long-term dosages on an individual basis.

Exogenous glucocorticoid therapy suppresses adrenocorticotropic hormone (ACTH) secretion and decreases pregnenolone, 17-hydroxypregnenolone, and DHEA levels. Exogenous mineralocorticoid therapy normalizes both renin and ACTH levels. Combination therapy of mineralocorticoid plus glucocorticoid replacement reduces total glucocorticoid dose required and improves statural growth.

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Glucocorticoids

Class Summary

Exogenous glucocorticoid therapy suppresses adrenocorticotropic hormone (ACTH) secretion, decreasing pregnenolone, 17-hydroxypregnenolone, and dehydroepiandrosterone (DHEA) levels. Doses used are somewhat empirical and must be individualized based on clinical findings, growth and skeletal maturation, and hormonal data, including monitoring of pregnenolone, 17-hydroxypregnenolone, and DHEA levels.

Hydrocortisone (A-Hydrocort, Cortef, Hydrocort)

Longer-acting preparations, such as prednisone and dexamethasone, are difficult to titrate and can lead to overtreatment and growth suppression.

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Mineralocorticoids

Class Summary

Exogenous mineralocorticoid therapy is required in patients with salt-losing variants of CAH (21-hydroxylase deficiency and 3-beta–hydroxysteroid dehydrogenase [3BHSD] deficiency). Plasma renin levels are elevated in patients with untreated salt-losing variants, and the addition of mineralocorticoid replacement normalizes both renin and ACTH levels. Combination therapy of mineralocorticoid plus glucocorticoid replacement reduces total glucocorticoid dose required and improves statural growth.

Fludrocortisone acetate (Florinef)

Only drug available in this category. Promotes increased reabsorption of sodium and loss of potassium renal distal tubules. Dosages are adjusted to achieve suppressed plasma renin levels.

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