SAT-454 - Congenital Adrenal Hyperplasia with Bilateral Adrenal and Testicular REST Tumors

A 46-year-old man with a history of salt-wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency presented to our clinic to establish care. He was diagnosed in adolescence after developing back pain. CT imaging at that time revealed bilateral adrenal tumors and further investigations confirm CAH diagnosis. Prior to that, he had been managed with dexamethasone and later transitioned to hydrocortisone 20 mg twice daily, without fludrocortisone due to a history of hypertension. However, he admitted to non-adherence to therapy and a previous episode of adrenal crisis.
Biochemical evaluation showed adequate adrenal control (normal electrolytes, ACTH, and 17-hydroxyprogesterone). Imaging revealed bilateral adrenal tumors consistent with adrenal rest tissue: a 27 mm right adrenal adenoma and a 60 mm left adrenal myelolipoma. Scrotal ultrasound showed bilateral testicular abnormalities with hypoechoic, atrophic changes and prior evidence of testicular adrenal rest tumors (TARTs). No acute symptoms or indications for surgical intervention were present. Repeat imaging and monitoring were planned.
Testosterone was low (total 62 ng/dL) with inappropriately normal-range gonadotropins, consistent with hypogonadotropic hypogonadism. Given history and imaging, a component of primary gonadal dysfunction was also suspected. Testosterone cypionate 100 mg weekly was resumed with education on appropriate use and potential risks, including infertility, erythrocytosis, and hepatotoxicity.
Patient was counseled on CAH management, signs of adrenal crisis, and the lifelong need for glucocorticoid therapy. This case highlights the complexity of managing both adrenal and gonadal sequelae in CAH and the need for tailored long-term monitoring and therapy.

Discussion:
Adrenal rest tumors are benign ectopic adrenal tissue remnants, typically arising from aberrant migration of adrenocortical cells during embryogenesis. These tumors are most frequently seen in patients with congenital adrenal hyperplasia (CAH), especially in those with chronic ACTH elevation due to inadequate hormonal control. In males, testicular adrenal rest tumors (TARTs) are the most common form, affecting up to 30–50% of individuals with classic CAH, often originating near the rete testis and potentially impairing fertility. Though rare in females, adrenal rest tumors can occur in the ovaries, para-ovarian tissues, or broad ligament. Other rare sites include the retroperitoneum and perirenal region. Chronic ACTH stimulation drives tumor growth, and proper glucocorticoid therapy can lead to tumor regression or stabilization. Imaging such as ultrasound, MRI, or PET/CT (with or without cosyntropin stimulation) assists in tumor detection and monitoring. Recognition and management of these tumors are critical to preventing long-term complications like infertility and mass effect.

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