Endocrine Abstracts

The patient had been diagnosed with congenital adrenal hyperplasia (CAH) at age 5 because of precocious of puberty. He had been receiving dexamethazone and fludrocortisone therapy over the course of his life. When he was 16 years old, a scrotal ultrasound had been performed for the evaluation of bilateral testicular pain which revealed multiple sharply marginated, hypoechoic masses throughout both testes. A biopsy of left testis had been reported as ‘Leidig cell tumour’. He refused orchiectomy and exited the follow-up of the prior clinic. After 4 years, he was admitted to our endocrinology clinic at the age of 20. A review of his story and laboratory findings showed that he had 21 hydroxilase deficiency, bilateral tumor of the testes. His compliance to glucocorticoid treatment was poor. The first biopsy of testis and a new biopsy of left testis was evaluated by the same pathologist and reported as a proliferation of polygonal cells with abundant granular, eosinophilic cytoplasm. Reinke crystals were absent, Kİ67%1-2, CD56 (+). Immunohistochemically, synaptophysin was positive, inhibin-alpha was focally positive.

Testicular lesions in the setting of CAH are commonly referred to as testicular adrenal rest tumors. They may arise from aberrant adrenal cells that descend with the testes during embryogenesis. They are frequently benign, multiple and bilateral. The tumors are most prevalent in younger adult males with a peak incidence between 20 and 40 years of age. First line imaging modality in the detection and surveillance of these tumors is ultrasonography. Histologically, testicular tumors of the adrenogenital syndrome are commonly mistaken for Leydig cell tumors as in our case. Clinical follow-up without orchiectomies is recommended unless untreated nodules of adrenal rests expand and destroy the testicular parenchyma, resulting in low testosterone production and infertility. Patient compliance to treatment is important since their presence is suggestive of suboptimal hormone replacement therapy.