{
  "abstract": "Objective: This study investigated the clinical features and long-term outcomes of patients with Turner mosaic syndrome with Y chromosome material (TMSY), focusing on the prevalence of gonadoblastoma.\n\nMethods: Clinical data of children with TMSY were retrospectively collected, covering age, assigned sex, chief complaint, external genital phenotype, karyotype, FISH, sex hormones, imaging, age at gonadectomy, gonadal histology and prognosis.\n\nResults: Fifteen patients with TMSY were enrolled. The average follow-up was 47.33 months. All children were raised as females with female-like genitalia. Karyotyping diagnosed 9 (60%) patients, and FISH confirmed 6 (40%). 13 patients underwent gonadectomy, revealing gonadoblastoma in 4 (30.77%) cases, while 2 were monitored regularly. Growth hormone therapy was administered to 12 (80%) patients until they reached a satisfactory height.\n\nConclusions: In our cohort, the prevalence of gonadoblastoma among patients with TMSY reached 30.77%. Given the favorable prognosis of gonadoblastoma, prophylactic gonadectomy is advised for patients with TMSY after a certain age to support spontaneous puberty and menstruation, enhancing patient involvement in clinical decisions.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Urology, Children’s Hospital of Soochow University, Suzhou, Jiangsu, China",
    "Department of Pediatric Surgery, Qinghai Provincial Maternal and Child Health Hospital, Xining, Qinghai, China"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Tianyi Wang"
    },
    {
      "affs": [
        1
      ],
      "name": "Guangqi Zeng"
    },
    {
      "affs": [
        0
      ],
      "name": "Xu Cao"
    },
    {
      "affs": [
        0
      ],
      "name": "Hongliang Xia"
    },
    {
      "affs": [
        0
      ],
      "name": "Ting Zhang"
    },
    {
      "affs": [
        0
      ],
      "name": "Xiangming Yan"
    },
    {
      "affs": [
        0
      ],
      "name": "Mingcui Fu"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/9413esv458ww1.bib",
  "cited_by": 0,
  "doi": "10.3389/fped.2026.1948778",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13731198/",
  "id": "9413esv458ww1",
  "issns": [
    "2296-2360"
  ],
  "landing_url": "https://doi.org/10.3389/fped.2026.1948778",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Original Research"
    ],
    [
      "openalex",
      "1311|Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities"
    ]
  ],
  "openalex": "W7223094772",
  "pdf_url": "https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2026.1948778/pdf",
  "pmcid": "PMC13731198",
  "pmid": "42984943",
  "published": "2026-10-21",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/9413esv458ww1.ris",
  "sources": [
    {
      "first_seen": "2026-11-08T12:21:26Z",
      "native_id": "PMC13731198",
      "source": "pmc",
      "url": "https://doi.org/10.3389/fped.2026.1948778"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "openalex:1311|Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Turner mosaic syndrome with Y chromosome material: characteristics, diagnosis, and management",
  "title_text": "Turner mosaic syndrome with Y chromosome material: characteristics, diagnosis, and management",
  "type": "peer-reviewed",
  "updated_at": "2026-11-08T12:21:26Z",
  "url": "https://research.draconitic.com/paper/9413esv458ww1",
  "venue": "Frontiers in Pediatrics",
  "versions": []
}