Leydig Cell Hyperplasia Mimicking a Testicular Tumour in a Patient with Klinefelter Syndrome

  • Christine Newman Department of Endocrinology, Mater Misericordiae University Hospital, Dublin 7, Ireland
  • Stephen Connolly Department of Endocrinology and Urology, Mater Misericordiae University Hospital, Dublin 7, Ireland
  • Owen MacEneaney Pathology Office, Mater Misericordiae University Hospital, Dublin 7, Ireland
  • Conor O'Keane Pathology Office, Mater Misericordiae University Hospital, Dublin 7, Ireland
  • Siobhan E McQuaid Department of Endocrinology and Urology, Mater Misericordiae University Hospital, Dublin 7, Ireland

Keywords

Leydig cell hyperplasia, Klinefelter syndrome

Abstract

Background: Klinefelter syndrome (KS) is the most common sex-chromosomal disorder in males. Frequently under-recognized, it occurs in 1 in 500–600 male births. It is caused by the inheritance of at least one additional X chromosome from either parent. Patients often have uncommon or atypical malignancies.
Patient: We describe the case of a 35-year-old man with 47XXY KS and previous cryptorchidism, presenting with a painful testicular mass. Histology confirmed Leydig cell hyperplasia.
Discussion: Cryptorchidism is an established risk factor for testicular tumours and occurs six times more commonly in KS than in the general population. Despite this, large epidemiological studies have shown a reduced burden of testicular cancer in these patients. The presentation of a hypoechoic lesion on ultrasound will prompt consideration of testicular tumours, however orchalgia represents an atypical presentation. In patients with KS, Leydig cell hyperplasia is a much more common entity and should be considered early in the differential diagnosis.

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  • Published: 2019-06-07

    Issue: Vol 6 No 6 (view)

    Section: Articles

    How to cite:
    Newman, C., Connolly, S., MacEneaney, O., O’Keane, C., & McQuaid, S. (2019). Leydig Cell Hyperplasia Mimicking a Testicular Tumour in a Patient with Klinefelter Syndrome. European Journal of Case Reports in Internal Medicine, 6(6). https://doi.org/https://doi.org/10.12890/2019_001129