21-hydroxylase deficiency differential diagnosis

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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 and hypotension:

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].

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