Patients homozygous for HSD3B2 c.35G>A fell into two distinct groups with regard to exogenous glucocorticoid requirements (P < .0001).
A, A SD (blue circles) group (n = 9; age, 3.7 ± 3.0 y) required mean dexamethasone doses of 0.22 ± 0.07 mg/m2/d (hydrocortisone equivalent, 15.4 ± 4.9 mg/m2/d), comparable to those reported for most salt-wasting CYP21A2-deficient patients (gray shaded area). A HD (green squares) group (n = 7; age, 5.6 ± 4.0 y) required considerably larger and more variable doses (dexamethasone, 0.54 ± 0.22 mg/m2/d; hydrocortisone equivalent, 37.8 ± 15.4 mg/m2/d) to control corticotroph ACTH secretion and overproduction of adrenal intermediates. B, A shift in the relationship between prescribed dexamethasone and DHEA levels suggests either medication nonadherence or altered homeostatic control of the HPA axis.
