Evaluation and management of genital anomalies in two patients with Klinefelter syndrome and review of literature.

OBJECTIVES

To present the evaluation and management of cryptorchidism and varicocele in patients with Klinefelter syndrome and review the literature. Recent advances in reproductive medicine have resulted in fertility in patients with Klinefelter syndrome. However, cryptorchidism and varicocele can affect the fertility potential on their own.

METHODS

We present 2 cases and review the literature with an emphasis on the fertility potential.

RESULTS

Germ cells were present in the testicular biopsy of an infant with cryptorchidism but not in the adolescent with a varicocele. The latter biopsy showed tubular sclerosis.

CONCLUSIONS

The fertility potential of patients with Klinefelter syndrome and cryptorchidism may be preserved or enhanced by an early orchiopexy. However, the potential benefit of ligation of internal spermatic veins in patients with Klinefelter syndrome and a varicocele warrants further study. Cryopreservation should be considered early in adolescence or adulthood as germ cells become depleted at an accelerated rate after puberty.