21-hydroxylase deficiency differential diagnosis
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters |
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Differentiating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other Diseases |
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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
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency must be differentiated from 11-β hydroxylase deficiency, 17-α hydroxylase deficiency, androgen insensitivity syndrome, polycystic ovarian syndrome, and adrenal tumor.
Differentiating congenital adrenal hyperplasia due to 21-hydroxylase deficiency from other diseases
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency must be differentiated from diseases that cause ambiguous genitalia or virilization:
| Disease name | |||
|---|---|---|---|
| Androgen insensitivity syndrome | |||
| 11-β hydroxylase deficiency | |||
| 17-α hydroxylase deficiency | |||
| Polycystic ovarian syndrome | |||
| Adrenal tumor |
The following features may help distinguish nonclassic congenital adrenal hyperplasia and polycystic ovary syndrome [33,34]:
●Nonclassic congenital adrenal hyperplasia is uncommon in African-American and Hispanic-Puerto Rican women [35,36].
●Insulin resistance may be more severe, but probably not more common in polycystic ovarian syndrome [33,34].
●Polycystic ovaries on ultrasound are less common in nonclassic congenital adrenal hyperplasia (40 versus 70 percent) [33,34].
●Obesity is more common in women with polycystic ovary disease [18].