Testicular Adrenal Rest Tumors in Boys and Young Adults with Congenital Adrenal Hyperplasia

Abstract

Purpose Testicular adrenal rest tumors (TART) are a well-known complication for males with congenital adrenal hyperplasia (CAH), with potential infertility in adulthood. We assessed the prevalence of TART in infant to young adult males presenting to a CAH Comprehensive Care Center. Materials and Methods 35 males with CAH due to 21-hydroxylase deficiency underwent scrotal ultrasonography (7 males <5 yr, 9 males 5–12 yr, and 19 males >12 yr). There were 32 classical and 3 non-classical CAH. Bone age x-ray (BA) or advanced BA history, glucocorticoid (GC) dose, fludrocortisone (FC) dose, and serum 17-hydroxyprogesterone (17OHP), testosterone, and androstenedione levels within 3 months of the ultrasound were also recorded. Results TART were detected (TART+) in 5/35 (14%) patients overall: 1/9 (11%) 5–12 yr and 4/19 (21%) >12 yr. TART were not detected in any patients <5 yr, including one infant in poor hormonal control (youngest TART+ was 6.6 yr). All TART+ had bilateral disease and only one had suspicious physical findings. GC dose and 17OHP did not differ between TART+ and TART-. TART+ were more likely to have advanced BA (100% vs. 42%; p= 0.04) and higher FC dose (p< 0.01). All non-classical males were TART-. Conclusions TART were present in young males with classical CAH, but not in infants or toddlers. TART were associated with higher FC requirements and history of advanced BA; however, not all poorly controlled males developed TART. Longitudinal studies are needed to understand individual predisposition to TART, and the age at which to begin screening in CAH.

Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with Its Development in Congenital Adrenal Hyperplasia

“…Tumors were bilateral in the 9 patients and, in most cases, were small and nonpalpable. These findings are in agreement with the 2009 review by Claahsen-van der Grinten et al [2] and other recent studies that found bilateral tumors in most patients [29, 30]. Only 1 patient with TART was SV.…”

“…In a recent study by Kim et al [29], a lower prevalence of TART (14%) was described in 35 patients; however, they included 3 patients with nonclassic 21-OHD, in which form TART generally does not occur.…”

The High Prevalence of Testicular Adrenal Rest Tumors in Adult Men With Congenital Adrenal Hyperplasia Is Correlated With ACTH Levels

“…The variability could be attributed to heterogeneity in the selection of patients, age, and the various glucocorticoid treatment regimens. In fact, Kim et al (15) suggested that the prevalence of T-ART is high in young men with CAH, but low in infants or elderly patients.…”

Testicular Adrenal Rest Tumours: fisiopatologia, diagnosi e trattamento

“…Infine, la presenza dei TARTs si associa a un peggior controllo ormonale nei pazienti con CAH, con livelli di ACTH [18], 17-OH-progesterone e androstenedione significativamente più elevati rispetto ai pazienti privi di queste [13,19] manifestazioni. Un inadeguato compenso ormonale, specialmente se protratto nel tempo, può avere notevoli implicazioni cliniche, come età ossea avanzata e bassa statura in pazienti pediatrici [20].…”