Case Report: Integrated physiological and performance profiling of an elite athlete with differences of sex development
8 affiliations
- 1Centre for Exercise Science and Medicine (CESAME), Hong Kong Baptist University , , ,
- 2BGI Research Shenzhen , ,
- 3School of Sport and Exercise Science, Institute of Sport, Manchester Metropolitan University , ,
- 4Riga Stradins University , ,
- 5International Federation of Sports Medicine, Fédération Internationale de Médecine du Sport (FIMS) , ,
- 6Department of Orthopaedics and Traumatology, Faculty of Medicine, The Chinese University of Hong Kong , , ,
- 7Department of Medicine, The University of Melbourne , , ,
- 8Institute for Clinical and Translational Science, University of California , , ,
Abstract
Background: Recent developments in athlete eligibility frameworks, including sex-determining region Y (SRY) gene screening, have renewed focus on the biological basis of sex classification in sport. However, the relationship between genetic and endocrine markers and sport-specific performance remains incompletely understood, particularly in athletes with differences of sex development (DSD).
Objective: To demonstrate a multidimensional, sport-specific framework for evaluating elite athletes with DSD, in whom genetic, endocrine and performance characteristics may not align uniformly with binary sex categories.
Methods: An integrated multidimensional physiological assessment was conducted in an elite football athlete with DSD. Assessments included endocrine profiling, whole-genome sequencing, body composition, neuromuscular performance, pulmonary function, aerobic capacity, and sport-specific field testing. Results were benchmarked against published elite football datasets and in-house comparator cohorts using z-scores.
Results: The 46,XY DSD athlete with a homozygous pathogenic SRD5A2 variant (c.578A > G) and a markedly elevated T:DHT ratio demonstrated heterogeneous physiological and football-specific performance characteristics across domains. Sprint ability and explosive power were above elite female football references, while strength and aerobic capacity were broadly comparable with female reference values.
Conclusion: This case illustrates the value of evaluating athletes using sport-specific physiological and performance data rather than isolated biological markers alone. Accumulation of similar multidimensional datasets may help inform more evidence-based, sport-specific approaches to athlete evaluation.
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BibTeX
@article{hu2026case,
title = {{Case Report: Integrated physiological and performance profiling of an elite athlete with differences of sex development}},
author = {Ke Hu and Kaiyun Huang and Xiao Xu and Blair R. Hamilton and Sandra Rozenštoka and Fabio Pigozzi and Samuel Ka-Kin Ling and Ada S. Cheung and Eric Vilain and Yannis P. Pitsiladis},
journal = {Frontiers in sports and active living},
year = {2026},
month = oct,
doi = {10.3389/fspor.2026.1906817},
url = {https://europepmc.org/article/PMC/PMC13724393},
note = {CC BY},
}
RIS
TY - JOUR
TI - Case Report: Integrated physiological and performance profiling of an elite athlete with differences of sex development
AU - Ke Hu
AU - Kaiyun Huang
AU - Xiao Xu
AU - Blair R. Hamilton
AU - Sandra Rozenštoka
AU - Fabio Pigozzi
AU - Samuel Ka-Kin Ling
AU - Ada S. Cheung
AU - Eric Vilain
AU - Yannis P. Pitsiladis
PY - 2026
DA - 2026/10/19
JO - Frontiers in sports and active living
DO - 10.3389/fspor.2026.1906817
UR - https://europepmc.org/article/PMC/PMC13724393
AB - Background: Recent developments in athlete eligibility frameworks, including sex-determining region Y (SRY) gene screening, have renewed focus on the biological basis of sex classification in sport. However, the relationship between genetic and endocrine markers and sport-specific performance remains incompletely understood, particularly in athletes with differences of sex development (DSD). Objective: To demonstrate a multidimensional, sport-specific framework for evaluating elite athletes with DSD, in whom genetic, endocrine and performance characteristics may not align uniformly with binary sex categories. Methods: An integrated multidimensional physiological assessment was conducted in an elite football athlete with DSD. Assessments included endocrine profiling, whole-genome sequencing, body composition, neuromuscular performance, pulmonary function, aerobic capacity, and sport-specific field testing. Results were benchmarked against published elite football datasets and in-house comparator cohorts using z-scores. Results: The 46,XY DSD athlete with a homozygous pathogenic SRD5A2 variant (c.578A > G) and a markedly elevated T:DHT ratio demonstrated heterogeneous physiological and football-specific performance characteristics across domains. Sprint ability and explosive power were above elite female football references, while strength and aerobic capacity were broadly comparable with female reference values. Conclusion: This case illustrates the value of evaluating athletes using sport-specific physiological and performance data rather than isolated biological markers alone. Accumulation of similar multidimensional datasets may help inform more evidence-based, sport-specific approaches to athlete evaluation.
SN - 2624-9367
ER -