Testicular Adrenal Rest Tumor in 11-Beta-Hydroxylase Deficiency Driven Congenital Adrenal Hyperplasia
A 16-year-old male patient was referred from the pediatrics clinic to our clinic with a diagnosis of 11β-hydroxylase deficiency-driven CAH after the determination of bilateral testicular masses. The patient's history revealed a diagnosis of 11β-hydroxylase deficiency-driven CAH at a young age. Although the patient's laboratory data from an early age were not available, the patient had been using dexamethasone 1×0.75 mg and spironolactone 1×100 mg irregularly.\nThe physical examination revealed multiple bilateral solid nodules in the testes of approximately 0.5 to 1.5 cm. The results of routine hematologic and biochemical tests and the levels of prolactin, luteinizing hormone, and follicle-stimulating hormone were normal. The testosterone level was at the lower limit (231.6 ng/dL). The values of serum markers for testis tumors, such as alpha-fetoprotein (AFP), beta-human chorionic gonadotropin (βhCG), and lactate dehydrogenase (LDH), were within normal ranges. Cortisol, ACTH, and dehydroepiandrosterone sulfate levels were likewise normal, unlike the elevated levels of 17-hydroxyprogesterone and 11-deoxycortisol, which were 23 ng/mL (<2 ng/mL) and 238 ng/mL (<8 ng/mL), respectively.\nScrotal ultrasonography revealed the following testicular sizes: right, 41 mm×21 mm, and left, 43 mm×22 mm. Both testes contained multiple solid heterogenic hypoechoic nodules of different sizes ranging from approximately 21 mm×15 mm to 14 mm×10 mm with well-drawn borders and increased vascularity as indicated by the arrows (). Scrotal magnetic resonance imaging revealed multiple solid nodules with the largest diameter being 18 mm in the right testis and 11 mm in the left. In T1A the nodules were hyperintense and in T2A they were hypointense. After intravenous gadolinium injection, intense homogeneous contrast accumulation was seen in the nodular lesions with contoured lobes and well-drawn borders (). No pathological findings were visible in the computerized tomography of the abdomen.\nSemen analysis showed oligoasthenoteratozoospermia. The patient's sperms were cryopreserved in case he underwent bilateral orchiectomy on the basis of malignant pathological findings. Because the testicular tumor could not be differentiated as malignant or benign on the basis of the laboratory and imaging findings, the patient underwent a right high inguinal testicular exploration. A 1.8-cm nodule was totally excised for frozen section analysis. Because the report of the frozen section analysis was benign, orchiectomy was not performed. After the tunica albuginea was sutured, the testis was placed back into the scrotum.\nHistopathological analysis revealed that the cells forming the mass were similar to Leydig cells with separated fibrous tissue; significant, nucleolus, eosinophilic cytoplasm; and polygonal shapes forming in some areas nests and at other areas layers. Mitosis was rare and necrosis was not seen. The cell cytoplasmic fluid contained lipofuscin but no Reinke crystals. Immunohistochemical analysis revealed that the tumor cells totally diffused with vimentin and Melan-A but were focally immunopositive to inhibin and creatine. Placental alkaline phosphatase and Ae1/Ae3 were immunonegative and the tissue was defined as TART (). The patient was diagnosed with TART, glucocorticoid treatment was initiated, and the patient was followed up.