Medical Professional Publications

Sperm Retrieval in Adolescents and Young Adults with Klinefelter Syndrome

Columbus, OH - March 2016

More than 95 percent of males with Klinefelter syndrome (karyotype 47, XXY) are not able to have biological children by natural means as a result of primary gonadal insufficiency. Fortunately, techniques such as testicular sperm extraction (TESE) and microdissection TESE have offered hope that these patients may be able to reproduce.

Adult studies have shown that the sperm retrieval rates in this population are approximately 50 percent and suggested that younger age may be a predictor of successful retrieval. Research published recently in The Journal of Pediatrics hoped to help answer a question that those earlier studies raised:

“Should we perform these procedures at a younger age to optimize our chances of retrieval?” asks Leena Nahata, MD, co-first author of the manuscript, member of the Section of Endocrinology at Nationwide Children’s Hospital and medical director of the hospital’s newly established Fertility and Reproductive Health Program. “It would be helpful to know if there is an advantage to pursuing sperm extraction in a 15 or 16 year-old, or if waiting until that person is older is the optimal approach.”

The prospective, pilot study led by Dr. Nahata while at Boston Children’s Hospital and Richard Yu, MD, PhD, urologist and director of the Fertility Preservation Program at Boston Children’s, found no clear benefit to earlier sperm extraction. Ten patients with Klinefelter syndrome, ages 15-23, underwent micro-TESE in one testis (in order not to place the other testis at risk). None had sperm in a semen analysis before the procedure. The overall sperm retrieval rate was 50 percent, or approximately the same rate found in studies of older patients.

Confirmation of these findings would likely need to occur in a larger, multi-institutional study, says Dr. Nahata. The recent results, though, may help clinicians advise patients and parents that at this point, waiting for retrieval is appropriate in most cases.

“Currently, we don’t have enough evidence to say that we should rush these patients to the operating room for sperm extraction, but more research is needed to help answer this question,” she says. 

The Fertility and Reproductive Health Program at Nationwide Children’s has been established to offer counseling to these patients and many others whose medical conditions and treatments may impair their future fertility. 

“We know that reproductive capacity has a significant impact on quality of life,” Dr. Nahata says. “We need to help our pediatric patients plan for their futures.”

Nahata L, Yu RN, Paltiel HJ, Chow JS, Logvinenko T, Rosoklija I, Cohen LE. Sperm retrieval in adolescents and young adults with Klinefelter syndrome: A prospective, pilot study. The Journal of Pediatrics. 2015 Dec 31. [Epub ahead of print]      

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