Differential diagnosis of ACTH-dependent mineralocorticoid excess

Disease	Abnormal steroids	Clinical features	Defective gene
17-hydroxylase deficiency	↑ DOC, corticosterone ↓ 17OH-steroids, cortisol ↓ aldosterone ↓ androgens and estrogens	Atypical genitalia or infantilism Autosomal recessive	CYP17A1
11-beta-hydroxylase deficiency	↑ DOC, 11-deoxycortisol ↓ corticosterone, cortisol ↓ aldosterone ↑ androgens	Androgen excess Autosomal recessive	CYP11B1
Syndrome of apparent mineralocorticoid excess	↑ cortisol/cortisone ratios ↓ aldosterone Normal androgens	Mimicked by licorice ingestion Autosomal recessive	HSD11B2
Glucocorticoid-remediable aldosteronism	↑ 18OH- and 18-oxo-cortisol ↑ aldosterone Normal cortisol Normal androgens	Hemorrhagic strokes common Autosomal dominant	Chimeric gene CYP11B1/CYP11B2
Glucocorticoid resistance	Moderate ↑ DOC, cortisol ↑ androgens Variable estrogens	Compensated adrenal insufficiency Androgen excess Autosomal recessive	NR3C1 (glucocorticoid receptor) Other
Cushing's disease	↑ cortisol and metabolites Variable other steroids	Cushingoid features Variable mineralocorticoid excess	Various tumor syndromes Also sporadic

ACTH: corticotropin; DOC: 11-deoxycorticosterone; 17OH: 17-hydroxy; 18OH: 18-hydroxy.

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