The Testicular “Tumor” of the Adrenogenital Syndrome

The clinical and pathological features of 40 cases in which testicular masses developed in patients with the adrenogenital syndrome are reviewed; this study was based on six personally observed cases and 34 other cases in the literature. The adrenal disorder was of the salt-losing form in two-thirds of the cases and the non-salt-losing form in the other third. Although the clinical diagnosis of the adrenogenital syndrome had been established prior to the discovery of the testicular lesion in most of the patients, in 18% of them the diagnosis was not made until or after the development of a testicular mass. Two-thirds of the masses were palpable (up to 10 cm); these cases were usually discovered in early adult life (average, 22.5 years). The remaining one-third were small (under 2 cm) and were usually found in children either at autopsy or on testicular biopsy. Eighty-three percent of the masses were bilateral. Eighty-six percent of the small lesions were located in the hilus. The larger lesions involved the testicular parenchyma in all but one case. They formed well-demarcated but unencapsulated brown-green masses, typically separated into lobules by prominent bands of fibrous tissue. Microscopical examination revealed sheets, nests, and (rarely) cords of cells with abundant eosinophilic cytoplasm separated by bands of fibrous tissue. Lipochrome pigment was identified in the cytoplasm in many cases, but crystals of Reinke were uniformly absent. The major pathological differential diagnosis is Leydig cell tumor; the associated clinical and laboratory features--including the high frequency of bilaterality and a decrease in the size of the tumor with corticosteroid therapy--are diagnostic of a testicular "tumor" of the adrenogenital syndrome. Although a variety of origins have been suggested for these lesions, in our opinion an origin from hilar pluripotential cells, which proliferate as a result of the elevated level of adrenocorticotropic hormone, is most likely.