Table 1.

Diagnostic ratios and summation of urinary cortisol and androgen metabolites as assessed by GC/MS in patients and their family members

	(THF+5α-THF)/THE	Cortols/cortolones	Total androgens, μg/24 h	Total cortisol metabolites, μg/24 h
Case A (46,XY)	0.26*	0.13*	4,945†	10,770†
Mother A	0.29*	0.13*	5,579	12,701†
Father A	0.95	0.61	5,639	9,211
Case B (46,XY)	0.16*	0.14*	7,740†	8,151
Mother B	0.50*	0.17*	8,248†	15,073†
Father B	0.75	0.33	6,354	11,319

Total metabolites reflect 24-h secretion rates of adrenal cortisol and androgens, respectively. Total androgens represent androsterone + etiocholanolone + dehydroepiandrosterone. Total cortisol metabolites represent THF + 5α-THF + THE + cortols + cortolones + free F + free E.

*Decreased below the minimum of the sex- and age-specific reference cohort.

^†Increased above the maximum of the sex- and age-specific reference cohort.