Laboratory investigation showed 17-hydroxyprogesterone 16 ng/dL, testosterone 5 ng/dL (normal for 17-year-old male is 348-1197 ng/dL), and renin 10.47 ng/mL/hr. Adrenal hormone assays were done by liquid chromatography tandem mass spectrometry at Esoterix Laboratory Services in Calabasas Hills, California, United States. Bone age of left hand was 17 years of age, consistent with his chronological age.
We decreased his hydrocortisone dosage to 20 mg twice a day (equivalent 25 mg/m2/day) with the goal of 17-hydroxyprogesterone level between 100 and 1000 ng/dL and androstenedione level normal for age and sex. His electrolytes were Na+ 135 mEq/L, Cl- 100 mEq/L, CO2 27 mEq/L, and K+ 4.3 mEq/L. Hologic DEXA scan showed bone mass density below expected range for age. Femoral neck Z-score was -3.2, total hip Z-score was -3.3, and total body Z-score was -1.7 (-1.0 to -2.5 SDS).
He returned to our clinic six months later and his laboratory work-up showed 17-hydroxyprogesterone 23 ng/dL, androstenedione < 10 ng/dL (normal 17-72 ng/dL for Tanner 3), renin 3.43 ng/mL/hr, IGFBP-3 2.8 mg/L (normal 2.5-4.8 mg/L), and IGF-1 252 ng/mL (normal 161-467 mg/mL, mean 290 mg/mL). We further decreased hydrocortisone dose to 20 mg in the morning and 10 mg in the evening (equivalent 18 mg/m2/day), which resulted in normal adrenal control (17-hydroxyprogesterone 426 ng/dL). Pituitary gonadal axis evaluation showed LH 9.6 mIU/mL, FSH 21 mIU/mL, testosterone 139 ng/dL, and androstenedione 35 ng/dL, suggesting primary gonadal dysgenesis. Patient has not had testicular ultrasound to evaluate for testicular adrenal rest tumor (TART). An ACTH stimulation test to confirm the CAH diagnosis was done after stopping hydrocortisone for 24 hours. Results were consistent with simple-virilizing CAH due to 21-hydroxylase deficiency (Table 1). Genetic testing for mutations in the 21-hydroxylase gene has not been obtained. Testosterone cypionate 50 mg IM every four weeks was started. This resulted in more aggressive behavior and violent outbursts prompting discontinuation of testosterone treatment.