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17 July 2013 - Case of the Week #279
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Thanks to Dr. Wafaey Fahmy Badawy Mohamed, Sharurah Armed Forces Hospital (Saudi Arabia), for contributing this case. To contribute a Case of the Week, follow the guidelines on our Case of the Week page.
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Case of the Week #279
A one year old boy was diagnosed clinically with left undescended testis. On examination, there was a firm nodular area near the external inguinal opening. Excisional biopsy of suspected area was done with part of the adjacent spermatic cord.
Gross examination showed a 2.5 cm cord-like piece of gray tissue. The first two micro sections below are from the spermatic cord and vas deferens.
What is your diagnosis?
Anorchia (regressive testicular syndrome)
The first image shows a spermatic cord with blood vessels, lymphatics and a vas deferens duct, adjacent to a "vanishing" testis. The second image shows a relatively normal appearing vas deferens. The remaining images of testicular tissue show fibrosis, hemosiderin, hemosiderin-laden macrophages, calcification and dilated vessels. Ghosts of fibosed seminiferous tubules are also present.
These features are consistent with testicular regression syndrome, which occurs in paucigonadal or agonadal individuals with male, female or ambiguous phenotype. Patients either have no gonadal or testicular formation or regression of testicular tissue with a residual fibrovascular nodule (mean 1.1 cm), calcification and hemosiderin, as seen in this case. Typically, a rudimentary epididymis and spermatic cord are present.
A vanishing or regressed testis affects ~5% of patients with cryptorchidism (Arch Pathol Lab Med 2000;124:694). Residual testicular tubules are found in less than 10% of cases, but seminiferous tubules and viable germ cells in testicular remnant tissue have occasionally been reported (Urology 2007;70:1204). Although ITGCN or germinal dysplasia has not been reported, there is a theoretical risk of malignant degeneration, and excision of testicular remnants is recommended (J Clin Res Pediatr Endocrinol 2012;4:116-20).
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