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Oncologic manifestations of Klinefelter syndrome

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Abstract

Klinefelter syndrome (47,XXY) has a prevalence of approximately 1 in 500 males. It is a condition characterized by an extra X chromosome and is an underdiagnosed clinical entity. Inactivation of genes enables their escape from regulatory mechanisms, which can result in such classic physical manifestations as hypogonadism, gynecomastia, infertility, and various hormonal and physical abnormalities. While the endocrine manifestations of 47,XXY are well-known, the oncologic manifestations have received less attention. An association between cancer and 47,XXY has not as yet been clearly defined, with variability noted in the prevalence of different malignancies in 47,XXY patients. The mechanisms underlying these altered oncologic risks are still under debate. Some of the proposed explanations include hormone imbalance, developmental malfunctions, and failed DNA repair mechanisms. However, the recognition of the oncological associations linked to 47,XXY could be helpful. Screening measures in certain malignancies may enable an earlier diagnosis of 47,XXY and the implementation of more customized care in 47,XXY and the mosaic variants.. The data for this review was compiled from relevant PubMed articles published within the last three decades and organized based on cancer type.

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Acknowledgments

We acknowledge using resources at the clinical research institute TTUHSC and appreciate the support received from them.

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Authors and Affiliations

  1. School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX, USA

    Alexsandra P. Rojas, Diana V. Vo & Lance Mwangi

  2. Lubbock, TX, USA

    Alexsandra P. Rojas

  3. Oncology Division of Internal medicine, Texas Tech University Health Sciences Center, Lubbock, TX, USA

    Shabnam Rehman

  4. Clinical Research Institute and Department of Internal Medicine, Texas Tech University Health Sciences Center, Lubbock, TX, USA

    Alan N. Peiris

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All authors contributed to the conception, research, writing, and editing of this article. The concept was created by Dr. Alan Peiris. Writing and data collection was performed by Alexsandra Rojas, Diana Vo, and Lance Mwangi. Critical analysis and editing were performed by Dr. Shabnam Rehman and Dr. Alan Peiris. The table was created by Alexsandra Rojas, and references were formatted by Diana Vo. All authors read and approved the final manuscript.

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Rojas, A.P., Vo, D.V., Mwangi, L. et al. Oncologic manifestations of Klinefelter syndrome. Hormones 19, 497–504 (2020). https://doi.org/10.1007/s42000-020-00241-7

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