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

Abstract

Background: Testicular adrenal rest tumors (TART) can cause infertility in congenital adrenal hyperplasia (CAH) males. Aims: To determine TART prevalence in patients with CAH due to 21-hydroxylase deficiency (21-OHD) and evaluate possible factors associated with its development. Methods: This is a descriptive and analytical cross-sectional study evaluating males with the classical form of 21-OHD through testicular ultrasonography and serum inhibin B dosages. Data on prescribed glucocorticoid dose and serum levels of 17- hydroxyprogesterone (17-OHP), androstenedione (Andro), ACTH, renin, and LH were obtained from medical records. Results: Thirty-eight males were evaluated. The mean age on ultrasonography was 15.2 ± 6.7 (3–27) years. Nine patients (23.7%) had TART, 4 of them were prepubertal and the youngest was 5 years old. No association was found between TART and 21-OHD phenotype, glucocorticoid dose, or 17-OHP, ACTH, LH, renin, and inhibin B levels measured in the 6 preceding years. However, 50% of the patients who presented increased Andro 2 years prior to the evaluation had TART (p = 0.018, OR = 8.00 [95% CI: 1.42–44.92]), whereas in the normal Andro group only 16.7% had tumors. Conclusion: This study showed that TART can occur in prepubertal patients and that disease control could be a factor associated with its development. Therefore, we suggest investigating TART development early in childhood, mainly in poorly controlled 21-OHD patients.

Transcriptional comparison of Testicular Adrenal Rest Tumors with fetal and adult tissues

“…ACTH is considered to be a growth promoting factor of TART, as the growth of TART is associated with poor hormonal control (11) and correlates with increased ACTH levels (12,13). Besides, intensifying glucocorticoid treatment is sometimes effective in reducing tumor size, most likely due to the suppressing effects on ACTH levels (12,(14)(15)(16).…”

Testicular adrenal rest tumors in children with congenital adrenal hyperplasia

“…19 While a study reported a prevalence of 21% in male children with CAH and found that TART was detected more in the older boys, there was a similar prevalence of 23.7% reported with a mean age of 15 years. 5,20 Testicular adrenal rest tumors were diagnosed in children with CAH as young as 4-7.5 years, in this study the youngest affected patient was 8 years. [3][4][5][6][7] Although, TART was not detected in neonates or toddlers, a single study reported the presence of TART in young children with CAH as the youngest affected patient was 1.8 year old.…”

“…Where many reports diagnosed TARTs in children with CAH as young as 4-7.5 years. [3][4][5][6][7] Testicular adrenal rest tumor was not detected in infants and toddlers; however, a single study reported the youngest affected patient at the age of 1.8 years. 8,9 The prevalence of TART in adult patients with CAH is up to 94%.…”

Individualizing Management of Infertility in Classic Congenital Adrenal Hyperplasia and Testicular Adrenal Rest Tumors

“…His short stature and biochemical profile at presentation suggest inadequate control of CAH during childhood and in the recent past. Poor CAH control has been described as a predictor of TART formation in some studies, although these findings have not been consistent [10, 11]. The presence of TART may remain occult because patients can remain asymptomatic and because these tumors are commonly not palpable until they are >2 cm because of their central location.…”