SAT-209 - Biochemical Control Alone Does Not Fully Explain the Pathogenesis of Testicular Adrenal Rest Tumors (TART).

Background:
Testicular adrenal rest tumors (TART) are a common complication of classical congenital adrenal hyperplasia (CAH) and a major cause of testicular dysfunction in males. Although poor hormonal control is traditionally considered a key risk factor, TART may occur despite adequate biochemical control.

Objective:
This study evaluated the relationship between biochemical control, hydrocortisone dosing, and the presence of TART in a cohort of boys with classical CAH.
Methodology
We conducted a retrospective chart review of 17 male patients with classical (CAH), including 12 with the salt-wasting and 5 with the simple virilizing form. All of them underwent testicular ultrasound evaluation. Clinical data, hydrocortisone dosing, 17-hydroxyprogesterone (17-OHP), and androstenedione (A4) levels were compared between patients with and without TART.

Results:
Testicular adrenal rest tumors (TART) were identified in 8 of 17 boys (47 %); mean age 28.5 ± 15.6 years, whereas 9 boys (53 %) had a normal testicular ultrasound (No-TART); mean age 14.2 ± 5.5 years. The TART group was significantly older, with two adult patients aged 57 and 48 years (p < 0.05). There were no significant differences in overall biochemical control or in mean hydrocortisone (Cortef) dose between groups: TART group, 13.1 ± 2.7 mg/m2; No-TART group, 14.2 ± 5.6 mg/m2.
TART group
1. TART despite “good” control: Among the 8 patients with TART, 3 had acceptable steroid profiles 15 yrs, HC dose 16.7 mg/m2, 17 OHP was 131, A4 was 24; 21 yrs old, HC dose was 8.5 mg/m2, 17-OHP was 174, A4 was 128; 22 yrs, HC 12.6 mg/m2, 17-OHP was 3610, A4 279.
Five patients with TART had poor control: 17 OHP, from 4824 to 43199 and A4 from 447 to 2285. HC dose 15 ± 2 mg/m2. A 57-year-old patient with TART also had an adrenal nodules.

2. No TART despite poor control; Among the 8 patients with normal ultrasound, 3 had very poor biochemical control:
22 yrs old, GC 25.4 mg/m2, 17 OHP 19753, A4 1304; 15 yrs., GC dose 14.7 mg/m2, 17 OHP 9460, A4 924, 12 yrs. old, GC dose 9.3 mg/m2, 17 OHP 5050, A4 320.
While 6 had good control in the No-TART group: GC from 9.2 to 19.1 mg/m2, 17 OHP from 205 to 2650, A4 from 42 to 257.
Sibling discordance
Two brothers with SW CAH didn't have a functional CYP21A2 gene: Allele1: 30 kb Deletion and Allele 2: 30 Kb deletion:
18 yrs old with TART had 17 OHP 12972, A4 2285, on 13 mg/m3 and 15 yrs old No-TART 17 OHP 1286, A4 257 on 12 mg/m2
Despite identical genotype, patients had different steroid exposure and sensitivity, different biochemical profiles, and different TART outcomes.
Conclusion
Routine ultrasound surveillance of the testes and adrenal glands is essential in classical CAH, as TART occurrence may not be reliably predicted by current biochemical control or glucocorticoid dosing.

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