Leydig cell tumor found incidentally during microscopic testicular sperm extraction in patient with mosaic Klinefelter syndrome: case report

Syndromes that cause infertility can affect a patient’s cancer risk. This case is an example of the role of the infertility specialist in identifying an unsuspected testicular tumor.

Volume 106, Issue 6, Pages 1344-1347


Nathan M. Shaw, M.D., Craig Stauffer, M.D., Michael L. Eisenberg, M.D.



To report the finding and management of a case of Leydig cell tumor discovered during the infertility evaluation of a patient with mosaic Klinefelter syndrome.


Single case report.


Academic hospital.


Patient seeking assistance with fertility after a diagnosis of mosaic Klinefelter syndrome.


The patient underwent microscopic testicular sperm extraction (mTESE) for sperm identification after the diagnosis of mosaic Klinefelter syndrome. Abnormal testicular tissue was identified during mTESE and histologically confirmed to be a Leydig cell tumor. The patient was informed of this incidental discovery and later underwent orchiectomy for conservative oncologic control.

Main Outcome Measure(s)

Histologic testicular assessment.


Patient was found to have no viable sperm on mTESE, but achieved oncologic control with bilateral orchiectomy.


The presented case emphasizes the importance of awareness and expedient appropriate management to achieve oncologic control of a rare tumor with low malignant potential discovered during otherwise routine mTESE. In particular, it highlights the role of the infertility specialist in aiding in diagnosis and treatment of incidental and rare findings.

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