Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with its Development in 6 Months to 18 Years-old Patients with Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a potentially life-threatening form of primary adrenal insufficiency characterized by cortisol, aldosterone, and epinephrine deficiencies, as well as overproduction of androgens. Infertility is one of the most important complications in male patients with CAH, and testicular adrenal rest tumors (TARTs) are known to be the most important cause of infertility in these patients. The prevalence of TART is considered to be high in patients with classic type of CAH, and poor hormonal control is known as a factor associated with tumor development. In the present study, the prevalence of TART and factors associated with its development were evaluated in pediatric patients with CAH. This is a descriptive cross-sectional study evaluating 30 males (6 month -18 years) with the classical 21-hydroxylase deficiency (21-OHD) through testicular ultrasonography. Data including age, bone age, puberty status, 21-OHD phenotype (salt wasting (SW) or simple virilizing (SV)) and serum levels of 17- hydroxyprogesterone (17-OHP), androstenedione and adrenocorticotropic hormone (ACTH) were recorded. The prevalence of TART was determined as 56.7%, which increased with age with a higher prevalence in children >12 years old (52.9%). The mean age in patients with TART was 12.4 ± 4.18 years. No association was found between TART and 21-OHD phenotype, androstenedione, or 17OHP levels, but an association was found between TART and elevated levels of ACTH (p= 0.049), advanced bone age (p= 0.030) and puberty (p= 0.003). According to the results, TART is very common and can occur in pre-pubertal and young patients, and the disease control could be a factor associated with its development. Therefore, it is suggested to investigate the TART development early in childhood, mainly in poorly controlled 21-OHD patients.