{
  "abstract": "SRY-negative 46,XX testicular disorder of sex development (DSD) is rare and often genetically unresolved. We report a child with Prader IV virilization, bilateral palpable gonads, Müllerian regression, and a 46,XX karyotype. Neonatal mini-puberty demonstrated testosterone and anti-Müllerian hormone production, supporting Leydig and Sertoli cell function. Gonadal histology demonstrated seminiferous tubules containing Sertoli cells and occasional germ cells. SRY was not detected in peripheral blood or skin fibroblasts, and targeted genetic testing identified no explanatory pathogenic variant. This case highlights the complementary roles of endocrine, histologic, and molecular evaluation in SRY-negative 46,XX testicular DSD.",
  "abstract_shown": true,
  "affiliations": [
    "Medical College of Wisconsin, Milwaukee, WI, USA.",
    "Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA."
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 2,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Eugene Chang-Yu Chen"
    },
    {
      "affs": [
        1
      ],
      "name": "Rosanna Fiallo-Scharer"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/aj97qqbfdrm87.bib",
  "cited_by": 0,
  "doi": "10.1016/j.eucr.2026.103645",
  "fulltext_url": "https://europepmc.org/articles/PMC13695306",
  "id": "aj97qqbfdrm87",
  "issns": [
    "2214-4420"
  ],
  "landing_url": "https://europepmc.org/article/MED/42927047",
  "language": "eng",
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "1312|Sexual Differentiation and Disorders"
    ]
  ],
  "openalex": "W7221863936",
  "pdf_url": "https://europepmc.org/articles/PMC13695306?pdf=render",
  "pmcid": "PMC13695306",
  "pmid": "42927047",
  "published": "2026-10-15",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/aj97qqbfdrm87.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:21:18Z",
      "native_id": "MED:42927047",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42927047"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "openalex:1312|Sexual Differentiation and Disorders",
      "subfield": "molecular-biology"
    }
  ],
  "title": "SRY-negative 46,XX testicular disorder of sex development: Endocrine, histologic, and molecular characterization.",
  "title_text": "SRY-negative 46,XX testicular disorder of sex development: Endocrine, histologic, and molecular characterization.",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:21:18Z",
  "url": "https://research.draconitic.com/paper/aj97qqbfdrm87",
  "venue": "Urology case reports",
  "versions": []
}