Prevalence of Spermatozoa in the Ejaculate of Adolescents With Klinefelter Syndrome: Implications for Fertility Counseling.

BACKGROUND: Klinefelter syndrome (KS) is the most common genetic cause of male infertility and is associated with nonobstructive azoospermia. Advances in surgical sperm retrieval techniques have enabled biological fatherhood in a subset of men with KS. Limited data exist concerning the presence of spermatozoa in the ejaculate of adolescent patients with KS. The question remains, on how to discuss fertility preservation with adolescents with KS, and to what extent attempts to obtain ejaculated spermatozoa should be encouraged, knowing that the chances of sperm retrieval are limited. OBJECTIVES: To evaluate the prevalence of spermatozoa in ejaculate samples from adolescents with KS followed at a single tertiary center in Copenhagen, Denmark. MATERIALS AND METHODS: This retrospective study included 48 patients with KS who had delivered a semen sample before the age of 21 years. Data on semen quality and serum concentrations of reproductive hormones were obtained from patient files. RESULTS: Spermatozoa were detected in the ejaculate from seven (14.6%) patients, including one with mosaic karyotype and six with non-mosaic KS. Six of the patients with spermatozoa in the ejaculate and 41 of the patients without were on testosterone replacement therapy at the time of semen sampling. No difference in biochemical or clinical parameters between patients with and without spermatozoa in the ejaculate was found. DISCUSSION: Our findings align with prior reports finding spermatozoa in the ejaculate of 3.4%-8.5% of patients with KS. Similar to other studies, neither biochemical nor clinical parameters explained the presence of spermatozoa in the ejaculate. This highlights the need for age-appropriate fertility counseling that balances emotional readiness with realistic expectations. CONCLUSION: We found spermatozoa in the ejaculate of seven of 48 (14.6%) adolescents with KS, although the majority were treated with testosterone.