Single-nucleus RNA sequencing reveals testosterone replacement therapy-associated multicellular remodeling of skeletal muscle in hypogonadal men with Klinefelter syndrome
Authors' conclusion
In this exploratory pilot study, TRT was associated with a shift toward a more pro-regenerative skeletal muscle transcriptional environment in patients with KS, though only partially mitigating some of the adverse effects of long-standing hypogonadism and KS.
Study context
- Population
- Hypogonadal men with Klinefelter syndrome; vastus lateralis biopsies
- Participants
- 4 vs 4
- Comparison
- Klinefelter syndrome (KS) patients at diagnosis vs after one year of testosterone replacement therapy (TRT); vs age-matched male controls
- KSn = 4
- Controlsn = 4reference
- Outcome
- Skeletal muscle nuclear transcriptomes across ten cell types
Methodological detailsexploratory pilot study, single-nucleus RNA sequencing, before-after (diagnosis and after one year of TRT), age-matched controls
- Exploratory pilot study
- Single-nucleus RNA sequencing
- Before-after (diagnosis and after one year of TRT)
- Age-matched controls
Main finding
As reported in the abstract
Nuclei profiled
81,786
Further findings
Sex hormones and muscle mass · one year of TRT
- KS patients who gained muscle mass
- three in four
- Hypogonadism confirmed at diagnosis in untreated KS
- TRT normalized serum testosterone and reduced LH and FSH
Original publication
Single-nucleus RNA sequencing reveals testosterone replacement therapy-associated multicellular remodeling of skeletal muscle in hypogonadal men with Klinefelter syndrome. J Clin Endocrinol Metab. Published 17 June 2026. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →