Metastatic Embryonal Cell Carcinoma with High Testosterone and Absence of Secondary Sexual Characteristics

ABSTRACT Objective: Embryonal cell carcinoma of the testicle with markedly elevated β-human chorionic gonadotropin (β-HCG) and testosterone concentrations with a paradoxical absence of secondary sexual characteristics has not been previously reported. Methods: A patient with a history of type 1 diabetes reported low libido and absent secondary sexual characteristics. A left testicular mass was discovered on examination. Further work up revealed high testosterone levels, suppressed luteinizing hormone and follicle-stimulating hormone levels, and erythrocytosis. Imaging studies revealed a 1-cm heavily calcified conglomerate mass in the left testicle and metastatic cancer involving axillary, supraclavicular, mediastinal, retroperitoneal, and pelvic lymph nodes. Results: Lymph node biopsy and surgical left orchiectomy specimens confirmed embryonal cell carcinoma with hyperplasia of Leydig cells. The patient was treated preoperatively with chemotherapy. Polycythemia and secondary sexual characteristics were restored after treatment. Conclusion: Our case demonstrates for the first time that an embryonal cell carcinoma of the testicle can be associated with polycythemia and markedly elevated β-HCG and testosterone concentrations with a paradoxical absence of secondary sexual characteristics. The secondary sexual characteristics can be restored and erythrocytosis reversed after normalization of β-HCG and testosterone concentrations. Abbreviations: DHT = dihydrotestosterone; FSH = follicle-stimulating hormone; HCG = human chorionic gonadotropin; LH = luteinizing hormone; T1D = type 1 diabetes mellitus