Urine steroid profile of the patient, heterozygote mother, father, and sister. The steroid analysis was performed on 24 h urine samples by GC/MS. Note the lack of androgens (ETIO, ANDRO) and the relative increase in corticosterone metabolites (THA, THB, 5α-THB) in the steroid profile of the patient compared to mother and father. THA—tetrahydro-11-dehydrocorticosterone; THB—tetrahydro corticosterone; 5a-THB-5α-tetrahydro corticosterone; THE—tetrahydrocortisone; THF—tetrahydrocortisol; 5a-THF-5α-tetrahydrocortisol; ETIO—etiocholanolone; ANDRO—androsterone; SS (ISTD)—internal standard.