{
  "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).\n\nObjective: 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.\n\nMethods: 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.\n\nResults: 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.\n\nConclusion: 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.",
  "abstract_shown": true,
  "affiliations": [
    "Centre for Exercise Science and Medicine (CESAME), Hong Kong Baptist University , , ,",
    "BGI Research Shenzhen , ,",
    "School of Sport and Exercise Science, Institute of Sport, Manchester Metropolitan University , ,",
    "Riga Stradins University , ,",
    "International Federation of Sports Medicine, Fédération Internationale de Médecine du Sport (FIMS) , ,",
    "Department of Orthopaedics and Traumatology, Faculty of Medicine, The Chinese University of Hong Kong , , ,",
    "Department of Medicine, The University of Melbourne , , ,",
    "Institute for Clinical and Translational Science, University of California , , ,"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 10,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Ke Hu"
    },
    {
      "affs": [
        0
      ],
      "name": "Kaiyun Huang"
    },
    {
      "affs": [
        1
      ],
      "name": "Xiao Xu"
    },
    {
      "affs": [
        2
      ],
      "name": "Blair R. Hamilton"
    },
    {
      "affs": [
        3
      ],
      "name": "Sandra Rozenštoka"
    },
    {
      "affs": [
        4
      ],
      "name": "Fabio Pigozzi"
    },
    {
      "affs": [
        5
      ],
      "name": "Samuel Ka-Kin Ling"
    },
    {
      "affs": [
        6
      ],
      "name": "Ada S. Cheung"
    },
    {
      "affs": [
        7
      ],
      "name": "Eric Vilain"
    },
    {
      "affs": [
        0
      ],
      "name": "Yannis P. Pitsiladis"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/65f5121vjyxq3.bib",
  "cited_by": 0,
  "doi": "10.3389/fspor.2026.1906817",
  "fulltext_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13724393/?tool=EBI",
  "id": "65f5121vjyxq3",
  "issns": [
    "2624-9367"
  ],
  "landing_url": "https://europepmc.org/article/PMC/PMC13724393",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "1312|Sexual Differentiation and Disorders"
    ]
  ],
  "openalex": "W7222978024",
  "pdf_url": "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13724393/pdf/?tool=EBI",
  "pmcid": "PMC13724393",
  "pmid": "42973661",
  "published": "2026-10-19",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/65f5121vjyxq3.ris",
  "sources": [
    {
      "first_seen": "2026-11-03T15:20:51Z",
      "native_id": "PMC:PMC13724393",
      "source": "europepmc",
      "url": "https://europepmc.org/article/PMC/PMC13724393"
    },
    {
      "first_seen": "2026-11-04T12:22:58Z",
      "native_id": "PMC13724393",
      "source": "pmc",
      "url": "https://doi.org/10.3389/fspor.2026.1906817"
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    {
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  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Sexual Differentiation and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "Case Report: Integrated physiological and performance profiling of an elite athlete with differences of sex development",
  "title_text": "Case Report: Integrated physiological and performance profiling of an elite athlete with differences of sex development",
  "type": "peer-reviewed",
  "updated_at": "2026-11-05T12:21:09Z",
  "url": "https://research.draconitic.com/paper/65f5121vjyxq3",
  "venue": "Frontiers in sports and active living",
  "versions": []
}