Prevalence of Testicular Adrenal Rest Tumor and Factors Associated with its Development in ۶ Months to ۱۸ Years-old Patients with Congenital Adrenal Hyperplasia

Background: 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.Methods: This is a descriptive cross-sectional study evaluating ۳۰ males (۶ month -۱۸ years) with the classical ۲۱-hydroxylase deficiency (۲۱-OHD) through testicular ultrasonography. Data including age, bone age, puberty status, ۲۱-OHD phenotype (salt wasting (SW) or simple virilizing (SV)) and serum levels of ۱۷- hydroxyprogesterone (۱۷-OHP), androstenedione and adrenocorticotropic hormone (ACTH) were recorded.Results: The prevalence of TART was determined as ۵۶.۷%, which increased with age with a higher prevalence in children >۱۲ years old (۵۲.۹%). The mean age in patients with TART was ۱۲.۴ ± ۴.۱۸ years. No association was found between TART and ۲۱-OHD phenotype, androstenedione, or ۱۷OHP levels, but an association was found between TART and elevated levels of ACTH (p= ۰.۰۴۹), advanced bone age (p= ۰.۰۳۰) and puberty (p= ۰.۰۰۳).Conclusion: 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 ۲۱-OHD patients.