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 |
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