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Background
Klinefelter syndrome is the most frequent sex chromosome disorder in males. It results from the presence of an extra X chromosome (47, XXY). Previous case reports and case series have demonstrated extragonadal germ cell tumours, testicular germ cell tumors and Leydig cell hyperplasia. 1- 3 Few such reports, however, have described the radiographical findings seen in Leydig cell hyperplasia.
Case presentation
A man in his 20's presented to the urology clinic with a history of left-sided orchalgia. Physical examination demonstrated bilaterally small testes. With the differential diagnosis including Klinefelter syndrome, a karyotype was assessed, confirming the diagnosis. A testis ultrasound demonstrated multiple, hypoechoic lesions with internal flow. The largest lesions measured 5 mmx6 mmx8 mm ( figure 1 ). An MRI of the scrotum was also performed, confirming the presence of these lesions ( figure 2 ). Serum tumour markers for testis cancer ([beta]-human chorionic gonadotropin, [alpha]-fetoprotein, lactate dehydrogenase) were assessed and were negative. Luteinising hormone and testosterone were obtained and were within normal limits.
After counselling the patient on his options, he elected for a partial orchiectomy, understanding that without tissue confirmation, a malignant process could not be ruled out definitively. Intraoperative...