Testicular adrenal rest tumors in an Indonesian patient with congenital adrenal hyperplasia: A first case report

Introduction: Testicular adrenal rest tumors (TART) are the leading cause of infertility in male patients with congenital adrenal hyperplasia (CAH). Late identification and poor hormonal control can increase the prevalence of this long-term complication. Until recently, there have not been any reported case of TART in the Indonesian population. Here, we describe the clinical symptoms and manifestations, laboratory, scrotal ultrasonography (US), bone age examination, and the treatment of the first detected TART patient in a boy with CAH in Indonesia. Case Presentation: A nine-year-old patient diagnosed with classic CAH due to 21-hydroxylase deficiency (21OHD) after a history of precocious puberty underwent scrotal US showing bilateral nodules near the mediastinum testes with a clear boundary, round shape, and hypoechoic lesions, which confirmed the presence of TART. The patient was poorly controlled with elevated 17-hydroxyprogesterone (17-OHP), androstenedione, testosterone, and luteinizing hormone (LH) concentrations, advanced bone age, and normal concentrations of follicle-stimulating hormone (FSH) and inhibin B. Glucocorticoid treatment was intensified after the TART diagnosis. Conclusion: This is the first case report of an Indonesian patient with CAH, in whom TART was detected by US at an early age. Especially in poorly controlled patients, US should be performed regularly already during childhood.