21-hydroxylase deficiency differential diagnosis

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

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 classic type must be differentiated from diseases that cause ambiguous genitalia:

Disease name	Elevated Steroids	Decreased steroids	Androgen status	Important distinguishing findings
Classic type of 21-hydroxylase deficiency	17-OHP Progesterone Androstenedione DHEA	Aldosterone Corticosterone (salt-wasting) Cortisol (simple virilizing)
11-β hydroxylase deficiency	DOC 11-Deoxy- cortisol	Cortisol Corticosterone Aldosterone
17-α hydroxylase deficiency	DOC Corticosterone Progesterone	Cortisol Aldosterone
3β-Hydroxysteroid Dehydrogenase	DHEA 17-OH pregneno-lone Pregnenolone	Cortisol Aldosterone
Gestational hyperandrogenism

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Non-classic type must be differentiated from diseases that cause virilization and hirsutism in female:

Disease name	Elevated Steroids	Decreased steroids	Androgen status	Important distinguishing findings
Non-classic type of 21-hydroxylase deficiency	17-OHP Exaggerated androstene-dione, DHEA, and 17-OHP response to ACTH	None
11-β hydroxylase deficiency	DOC 11-Deoxy- cortisol	Cortisol Corticosterone Aldosterone
17-α hydroxylase deficiency	DOC Corticosterone Progesterone	Cortisol Aldosterone
3β-Hydroxysteroid Dehydrogenase	DHEA 17-OH pregneno-lone Pregnenolone	Cortisol Aldosterone
Polycystic ovary syndrome				Polycystic ovaries in sonography Obesity
Adrenal tumors
Ovarian virilizing tumor
Cushing's syndrome.
hyperprolactinemia
Ovarian hyperthecosis
Syndromes of severe insulin resistance