Perspectives From Adolescents and Young Adults With Klinefelter Syndrome on Testosterone Supplementation and Fertility

Abigail Tubman, Jaclyn L Papadakis, Courtney Finlayson, Debra Duquette, Allison Goetsch Weisman
Journal of the Endocrine Society, Volume 9, Issue 9, September 2025, bvaf112
https://doi.org/10.1210/jendso/bvaf112

Abstract

Context

Infertility and testicular dysfunction are typical features of Klinefelter syndrome (KS; 47,XXY). KS affects ∼1:600 male births, making it the most common chromosomal aneuploidy. As more adolescent and young adult (AYA) patients with KS seek care, it becomes increasingly important to investigate their understanding of information about testosterone supplementation and infertility.

Objective

This qualitative study aimed to explore the perspectives of AYA with KS about testicular dysfunction, specifically the likely need for testosterone replacement and, if desired, fertility-related interventions.

Methods

Semistructured interviews were conducted with 13 AYA with KS ages 14 to 23 years (mean, age 16 years). Reflexive thematic analysis was applied.

Results

Two themes were generated concerning testicular dysfunction: understanding of testosterone supplementation and fertility discussions. Most individuals lacked a comprehensive understanding of the use and health benefits of testosterone treatment. A facilitator to testosterone replacement adherence was perceived health benefits, whereas a barrier was the mode of delivery. All participants had either seen a fertility specialist or planned to see one. Emotional responses to infertility varied; however, many had negative reactions and emphasized the importance of learning that there are many ways to have children.

Conclusion

This study improves the understanding of AYA with KS perspectives regarding testosterone supplementation and infertility, which in turn may help providers implement effective clinical and educational interventions for this growing patient population.

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