Key Points
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Testicular biopsy can be performed in children for diagnostic purposes or potentially for therapeutic reasons
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Patients with gonadal dysgenesis and severe undermasculinization are at considerable risk of germ cell tumours
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Carcinoma in situ or gonadoblastoma can be detected in the dysgenetic gonads of patients with disorders of sexual development using immunohistochemical markers for OCT-3/4, Kit ligand (SCF) and TSPY
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Testicular biopsy performed on a prepubertal testicle does not lead to formation of antisperm antibodies or testicular microlithiasis
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Testicular histology is of considerable value in the prediction of fertility potential in individuals with undescended testes
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Cryopreservation of testicular tissue samples shows promise for the preservation of fertility in prepubertal boys who receive gonadotoxic chemotherapy
Abstract
No consensus exists regarding the precise role of testicular biopsy in prepubertal boys, although it is considered useful for assessing the potential consequences of undescended testes on fertility. Current scientific knowledge indicates that surgeons should broaden indications for this procedure. For example, the use of immunohistochemical markers such as OCT/3-4, TSPY, Kit ligand (SCF) and ALPP (PLAP) has considerably facilitated the detection of germ cell tumour precursors, such as carcinoma in situ and/or gonadoblastoma. These markers are very important for evaluating malignancy risk in undervirilized patients with 46,XY disorders of sexual development. Testicular histology is also of considerable value in the prediction of both fertility potential and risk of cancer in individuals with undescended testes, particularly those with intraabdominal undescended testes. New possibilities for the preservation of fertility after gonadotoxic chemotherapy — even for prepubertal boys — are emerging. Cryopreservation of testicular tissue samples for the preservation of fertility — although still an experimental method at present — is appealing in this context. In our opinion, testicular biopsy in prepubertal boys is a minor procedure that can provide valuable information for predicting the risk of malignancy and fertility, and might be useful in fertility preservation in the near future.
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Acknowledgements
The authors sincerely thank D. MacGregor for his support in the redaction of this manuscript regarding his expertise in testicular histology. A.F. acknowledges the support of grants from the French Society of Pediatric Surgery (SFCP) and the Association for the Development of Biological and Medical Research (ADEREM).
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A.F. researched data for the article, A.F., J.T., J.H. and Y.H. provided a substantial contribution to the discussion of content, A.F. and Y.H. wrote the article, and all authors were involved in the review/editing of the manuscript before submission.
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Faure, A., Bouty, A., O'Brien, M. et al. Testicular biopsy in prepubertal boys: a worthwhile minor surgical procedure?. Nat Rev Urol 13, 141–150 (2016). https://doi.org/10.1038/nrurol.2015.312
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DOI: https://doi.org/10.1038/nrurol.2015.312
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