21-hydroxylase deficiency natural history, complications and prognosis

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2]

Overview

Common complications of 21-hydroxylase deficient congenital adrenal hyperplasia include short stature, adrenal crisis, infertility, and precocious puberty. The prognosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is generally good with treatment.

Complications

Common complications associated with 21-hydroxylase deficient congenital adrenal hyperplasia include:

• Adrenal crisis
• Infertility
• Precocious puberty
• Virilization
• Dehydration
• Short stature

Prognosis

• The prognosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency is generally good with treatment.
• A small percentage of children and adults with infancy or childhood onset congenital adrenal hyperplasia die of adrenal crisis, even after diagnosis and initiation of treatment.
• When a person is well, missing a dose or even several doses, may not worsen the immediate symptoms. However, glucocorticoid needs are increased during illness and stress.
• Missed doses during time of illness can lead (within hours) to hypotension, shock, and death.