Figure 1.

In vivo steroidogenic enzyme activity in the patient at the age of 9 yr as determined by diagnostic substrate to product ratios (A–D) and total excretion (E) of 24-h urinary steroid metabolites measured by GC/MS and shown in comparison with an age-matched reference cohort (n = 10). Box plots represent interquartile ranges (25th to 75th percentile), whiskers the fifth and 95th percentile, respectively, of the normal reference cohort; the patient’s results are represented by a closed circle. For steroid abbreviations and definition of steroid substrate/product ratios, please see Subjects and Methods.