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  • Review Article
  • Published:

Risk factors for cryptorchidism

Nature Reviews Urology volume 14, pages 534–548 (2017)Cite this article

Subjects

Key Points

  • Cryptorchidism (undescended testes) is one of the most common congenital abnormalities observed in boys, and is one of the few known risk factors for testicular cancer

  • The key factors associated with the occurrence of cryptorchidism remain elusive

  • Few factors are supported by consistent evidence of an association with cryptorchidism despite a considerable body of aetiological research

  • For factors for which evidence seems unequivocal, the measured factor is likely to be a surrogate for the true causal factor

  • The relative importance of each risk factor could vary considerably between mother–son pairs depending on an array of genetic, maternal, placental and fetal factors, which could vary between regions

Abstract

Undescended testis — known as cryptorchidism — is one of the most common congenital abnormalities observed in boys, and is one of the few known risk factors for testicular cancer. The key factors that contribute to the occurrence of cryptorchidism remain elusive. Testicular descent is thought to occur during two hormonally-controlled phases in fetal development — between 8–15 weeks (the first phase of decent) and 25–35 weeks gestation (the second phase of descent); the failure of a testis to descend permanently is probably caused by disruptions to one or both of these phases, but the causes and mechanisms of such disruptions are still unclear. A broad range of putative risk factors have been evaluated in relation to the development of cryptorchidism but their plausibility is still in question. Consistent evidence of an association with cryptorchidism exists for only a few factors, and in those cases in which evidence seems unequivocal the factor is likely to be a surrogate for the true causal exposure. The relative importance of each risk factor could vary considerably between mother–son pairs depending on an array of genetic, maternal, placental and fetal factors — all of which could vary between regions. Thus, the role of causative factors in aetiology of cryptorchidism requires further research.

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Figure 1: Descent of the testis in humans.

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Authors and Affiliations

  1. Department of Public Health, University of Otago, 23a Mein St, Newtown, 6037, Wellington, New Zealand

    Jason K. Gurney, James Stanley, Virginia Signal, Caroline Shaw, Richard Edwards & Diana Sarfati

  2. Division of Cancer Epidemiology & Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, 20850, Maryland, USA

    Katherine A. McGlynn

  3. Department of Biochemistry, University of Otago, 710 Cumberland Street, North Dunedin, 9016, Dunedin, New Zealand

    Tony Merriman

  4. Cancer Epidemiology Unit, University of Turin, Via Giuseppe Verdi, 8, 10124, Torino, Italy

    Lorenzo Richiardi

  5. The Royal Children's Hospital, 50 Flemington Rd, Parkville, Melbourne, 3052, VIC, Australia

    John Hutson

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  1. Jason K. Gurney
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Contributions

J.K.G. and V.S. researched data for the article, J.K.G. wrote the article. J.K.G., K.A.McG., J.S., T.M., C.S., R.E.,L.R., J.H. and D.S. made substantial contributions to discussion of content and reviewed and edited the manuscript before submission.

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PowerPoint slides

Glossary

Orchidopexy

Surgical repositioning of the cryptorchid testis into the scrotum.

Subfertility

Reduced ability to reproduce, as measured in males using self-reported markers, such as difficulty impregnating a partner, or biomarkers, such as sperm count and motility.

Preeclampsia

A pregnancy-related condition involving high blood pressure, and often including fluid retention and proteinurea.

Mendelian randomization

A methodological technique in which inherited genetic variants that alter predisposition to (or mirror the effect of) a given environmental exposure are used to study the effect of the exposure on disease risk.

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Gurney, J., McGlynn, K., Stanley, J. et al. Risk factors for cryptorchidism. Nat Rev Urol 14, 534–548 (2017). https://doi.org/10.1038/nrurol.2017.90

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