17β-Hydroxysteroid Dehydrogenase Deficiency in Malignant Interstitial Cell Carcinoma of the Testis

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Abstract
A partial defect in testosterone (T) secretion due to a 17β-hydroxysteroid dehydrogenase deficiency has been documented in a patient with advanced metastatic interstitial cell carcinoma of the testis. Basal serum T was decreased (83 ng/ ml), whereas androstenedione was markedly elevated (847 ng/ ml). Dehydroepiandrosterone sulfate and estrone were moderately increased, while LH, FSH, and estradiol were minimally increased. After hCG administration, androstenedione rose to a much greater degree than T. Fluoxymesterone failed to suppress circulating androgens and estrogens to below basal values, although LH and FSH were suppressed to immeasurable levels. These data support a partial enzyme deficiency within the tumor. They also suggest that although the tumor was autonomous, it still was capable of being stimulated by exogenous gonadotropins.