Testicular sperm extraction successful in adolescents with Klinefelter's

Key Points

In the past, the diagnosis was usually made in adults, but "pediatricians are making the diagnosis earlier with severely atrophic testicles, and they're presenting now at ages of 15 to 20 years. Pediatric endocrinologists are wanting to put them on testosterone," explained first author Stanton C. Honig, MD, associate clinical professor of urology/surgery at the University of Connecticut School of Medicine, Farmington, and a staff urologist at Yale-New Haven Hospital, New Haven, CT.

As testosterone therapy suppresses sperm production, many pediatric endocrinologists treating these patients are beginning to refer them to fertility specialists to have a discussion regarding future fertility and possibly have sperm retrieved and cryopreserved. Specialists at two clinics-Dr. Honig at the University of Connecticut Health Center and Hossein Sadeghi-Nejad, MD, at the Hackensack University Medical Center (affiliated with UMDNJ) in Hackensack, NJ-reported their results with testicular sperm extraction in adolescent males.

The patients, seen in the clinic with their parents, underwent history taking, physical examination, hormonal evaluation, genetic testing, and semen analysis. They underwent either conventional TESE (performed on six testes) or TESE with microdissection (four testes), depending on the surgeon's preference.

All patients had nonmosaic-pattern Klinefelter's syndrome and had elevated FSH levels. All testes were severely atrophied. Three patients had Sertoli cell only, and two had mostly Sertoli cell only but with maturation arrest and hypospermatogenesis.

The sperm retrieval rate was 40% overall, with a 50% rate for conventional TESE and 25% for microdissection TESE, the researchers reported at the AUA annual meeting in Chicago.

Long-term sperm survival unknown

Data suggest that the likelihood of finding sperm from TESE in Klinefelter's patients decreases with age. Because the sperm retrieval rate was reasonable in this study, the researchers believe that TESE should be discussed with adolescent Klinefelter's patients and their parents before androgen supplementation is started. But it remains to be seen whether TESE retrieval rates are higher in adolescent males than in their older counterparts. The long-term risks of TESE in adolescents with Klinefelter's is not known either.

Another open question is whether long-term cryopreservation will work.

"In the literature on cancer patients, it looks like these sperm will survive long term. But these are extremely low numbers of sperm, and there's no data on cryopreserving testicular tissue for 10 to 15 years," Dr. Honig said.

Time-and experience-will tell.

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