Table 1.

Potential Serum Steroid Biomarkers in Human Adrenal Disorders

Disease/Disorder	Discriminating Steroids	References
21-hydroxylase Deficiency	↑ 17OH-Progesterone, ↑ 16OH-Progesterone, ↑ 11OH-Progesterone, ↑ 21-Deoxycortisol, ↑ A4, ↑ 11OHA4, ↑ 11KA4, ↑ 11OHT, ↑ 11KT, ↑ Preg-S ↓ DHEA, ↓ DHEA-S	[19, 39–41, 48, 49]
Premature Adrenarche	↑ DHEA, ↑ A4, ↑ 11OHA4, ↑ 11KA4, ↑ 11OHT, ↑ 11KT, ↑ Preg-S, ↑ 17OHPreg-S, ↑ DHEA-S, ↑ Adiol-S	[26, 64–67, 70–72, 75]
Polycystic Ovary Syndrome	↑ DHEA, ↑ DHEA-S, ↑ A4, ↑ T, ↑ 11OHA4, ↑ 11KA4, ↑ 11OHT, ↑ 11KT	[80–82, 88–90, 93–95, 138]
Adrenocortical Cancer	↑ 11-Deoxycortisol, ↑ Preg-S, ↑ 17OHPreg-S	[104, 106–109]
Primary Aldosteronism	↑ 18OH-Cortisol, ↑ 18oxo-Cortisol (KCNJ5) ↑ Aldosterone (ATPase) Other discriminating steroid between mutations in KCNJ5, ATPase and CACNA1D: 11-Deoxycorticosterone, Corticosterone, Cortisol, 21-Deoxycortisol	[117–121, 129]
Cushing Syndrome	↑ Cortisol, ↑11-Deoxycortisol, ↑ 21-Deoxycortisol, ↑ 11-Deoxycorticosterone, ↑ Corticosterone ↓ DHEA-S, ↓ DHEA, ↓ A4 (ACTH-independent) ↓ Aldosterone (ACTH-dependent, ectopic)	[134, 136, 137]

DHEA, Dehydroepiandrosterone; DHEA-S, DHEA sulfate; A4, Androstenedione; T, Testosterone; 11OHA4, 11β-Hydroxyandrostenedione; 11KA4, 11-Ketoandrostenedione; 11OHT, 11β-Hydroxytestosterone; 11KT, 11-Ketotestosterone; Preg-S, Pregnenolone sulfate; 17OHPreg-S, 17α-hydroxypregnenolone sulfate; Adiol-S, Androstenediol sulfate.

Underlined steroids are products of aberrant steroid pathways found in adrenal disease that are only minor products of normal adrenals.