Table 5 The further characterization of 46 XX DSD based on endocrine profile
Type of congenital adrenal hyperplasia | Characteristics |
|---|---|
Deficiency of CYP21A2 | Increased serum 17-OHP, salt wasting |
Deficiency of CYP11B1 | Elevated serum 17-OHP, increased 11-deoxycortisol, elevated 11-deoxycorticosterone |
3-BHSD deficiency | Elevated serum 17-OHP, increased 1-OH pregnenelone; minimum virilization, salt wasting |
p450 oxidoreductase (POR) deficiency | Increased progesterone and 17-OHP, glucocorticoid deficiency +/− |
Exogenous androgen exposure | Normal serum 17-OHP |