21-hydroxylase deficiency history and symptoms

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-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

History and Symptoms

Early-onset: Severe 21-hydroxylase deficient congenital adrenal hyperplasia

The two most serious neonatal consequences of 21-hydroxylase deficiency occur when there is minimal measurable hydroxylase activity from prenatal life: severe virilization of female infants and life-threatening salt-wasting crises in the first month of life for XX and XY infants alike.

Testosterone levels in these woman may be mildly elevated, or simply above average.

References

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