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	Steroid status	Other laboratory	Important distinguishing findings
Classic type of 21-hydroxylase deficiency	Increased: 17-OHP Progesterone Androstenedione DHEA Decreased: Aldosterone Corticosterone (salt-wasting) Cortisol (simple virilizing)
11-β hydroxylase deficiency	Increased: DOC 11-Deoxy- cortisol Decreased: Cortisol Corticosterone Aldosterone
17-α hydroxylase deficiency	Increased: DOC Corticosterone Progesterone Decreased: Cortisol Aldosterone
3β-Hydroxysteroid Dehydrogenase	Increased: DHEA 17-OH pregneno-lone Pregnenolone Decreased: 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	Increased: 17-OHP Exaggerated androstene-dione, DHEA, and 17-OHP response to ACTH
11-β hydroxylase deficiency	Increased: DOC 11-Deoxy- cortisol Decreased: Cortisol Corticosterone Aldosterone
17-α hydroxylase deficiency	Increased: DOC Corticosterone Progesterone Decreased: Cortisol Aldosterone
3β-Hydroxysteroid Dehydrogenase	Increased: DHEA 17-OH pregneno-lone Pregnenolone Decreased: Cortisol Aldosterone
Polycystic ovary syndrome				Polycystic ovaries in sonography Obesity PCOS is the most common cause of hirsutism in women No evidence another diagnosis
Adrenal tumors				Older age Rapidly progressive symptoms
Ovarian virilizing tumor				Older age Rapidly progressive symptoms
Cushing's syndrome.
hyperprolactinemia
Ovarian hyperthecosis
Syndromes of severe insulin resistance