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Testicular microlithiasis: recent advances in understanding and management

Abstract

Testicular microlithiasis is an infrequent but well recognized condition, which is usually incidentally identified on testicular ultrasound scan. Interest in testicular microlithiasis has increased over the past few years, owing to an observed association with testicular germ cell tumor (TGCT) and intratubular germ cell neoplasia of unclassified type (ITGCNU). This association has added to evidence that testicular microlithiasis is a feature of the testicular dysgenesis syndrome (TDS), which is postulated to underpin disorders of male reproduction such as subfertility, testicular atrophy, cryptorchidism, TGCT and other abnormalities of sexual development. Although the genetic and environmental components of TDS remain unclear, studies of the molecular basis of TGCT support a genetic component for testicular microlithiasis and have identified multiple genes that are associated with TGCT. These advances in the biological understanding of testicular microlithiasis and TGCT have not, however, resolved key clinical dilemmas in the management of patients with these diseases. The role of testicular microlithiasis in the clinical consideration of testicular biopsy is discussed in the context of the apparently healthy individual, the individual with TGCT and the individual with TDS.

Key Points

  • Multiple predisposing genes for testicular microlithiasis and testicular germ cell tumor (TGCT) have been identified, some of which are associated with estrogen signaling pathways

  • A patient diagnosed with testicular microlithiasis needs careful initial evaluation for any personal and family history of testicular dysgenesis syndrome (TDS), including symptoms of subfertility, cryptorchidism, testicular atrophy and TGCT

  • Asymptomatic and apparently healthy young patients (aged 13–39 years) with testicular microlithiasis but without features of TDS should be monitored with testicular self-examination, rather than biopsy

  • Patients with testicular microlithiasis and at least one other TDS feature should be informed of the benefits and risks of testicular biopsy for the potential diagnosis of intratubular germ cell neoplasia of unclassified type (ITGCNU)

  • Systemic chemotherapy, which is often administered as part of a TGCT treatment plan, may eradicate ITGCNU and reduce the incidence of metachronous contralateral TGCT

  • Patients with newly diagnosed TGCT who have concurrent testicular microlithiasis should be considered for contralateral testicular biopsy on an individual basis

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Figure 1: Testicular microlithiasis as seen on ultrasonography.
Figure 2: Hematoxylin and eosin stained section of the testis (magnification ×200) showing calcifications that were initially detected by ultrasound scan.

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Acknowledgements

We would like to thank Dr Tze Hern Teo (Department of Oncologic Imaging, National Cancer Center, Singapore) and Dr Puay Hoon Tan (Department of Pathology, Singapore General Hospital, Singapore) for kindly providing the radiological and histological images, respectively. C. P. Vega, University of California, Irvine, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the Medscape, LLC-accredited continuing medical education activity associated with this article.

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M. H. Tan researched data for the article. M. H. Tan and C. Eng contributed equally to discussions of content as well as the writing and editing of this manuscript before submission.

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Correspondence to Min-Han Tan.

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Tan, MH., Eng, C. Testicular microlithiasis: recent advances in understanding and management. Nat Rev Urol 8, 153–163 (2011). https://doi.org/10.1038/nrurol.2011.1

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