{
  "abstract": "Purpose To analyse the incidence and characteristics of tumours diagnosed during childhood or adolescence in patients with Turner syndrome (TS) and Klinefelter syndrome (KS).Methods A retrospective analysis was conducted on clinical information of children diagnosed with TS and KS between 2010 and mid-2024. Meanwhile, the number of children with concomitant tumours was determined, and the incidence was analysed.Result A total of 23 individuals (median age 10 years, range: after birth to 16 years) with tumours were identified among the 657 children with TS and KS (median age=9 years, range: birth to 18 years), resulting in a tumour incidence of 3.50%. Within a cohort of 560 TS cases (median age 9 years, range: birth to18 years), 20 (3.57 %) were diagnosed with tumours. In a cohort of 97 KS cases (median age 4.3 years, range: 1–16 years), three (3.09 %) cases were diagnosed with tumours. The most common tumours in TS were osteochondroma (n=7) and haemangioma (n=6), with an estimated incidence of 1.25% and 1.07%, followed by gonadoblastoma (n=2), with an incidence of 0.36% in all TS and 4.44% in TS presenting with Y-chromosome material. In patients with KS, haemangioma (n=1), acute lymphoblastic leukaemia (n=1) and germ cell tumours (n=1) were observed. The co-occurrence of hepatic haemangiomas, mixed-phenotype acute leukaemia in TS, and the karyotypes (48,XXY,+21) of patient with intracranial germ cell tumours have not been previously reported.Conclusion Early-diagnosed TS and KS present with a variety of tumours in affected children, with osteochondromas representing the most prevalent in early diagnosed TS.",
  "authors": [
    {
      "affiliations": [
        "Henan Provincial Key Laboratory of Children’s Genetics and Developmental Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Neurodevelopment Engineering Research Center, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan, China"
      ],
      "name": "Gaowei Wang"
    },
    {
      "affiliations": [
        "Henan Provincial Key Laboratory of Children’s Genetics and Developmental Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Neurodevelopment Engineering Research Center, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan, China"
      ],
      "name": "Meiye Wang"
    },
    {
      "affiliations": [
        "Henan Provincial Key Laboratory of Children’s Genetics and Developmental Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Neurodevelopment Engineering Research Center, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan, China"
      ],
      "name": "Jin Wang"
    },
    {
      "affiliations": [
        "Henan Provincial Key Laboratory of Children’s Genetics and Developmental Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Neurodevelopment Engineering Research Center, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan, China"
      ],
      "name": "Zhenhua Zhang"
    },
    {
      "affiliations": [
        "Department of Development and Regeneration, KU Leuven, Leuven, Belgium",
        "Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, Belgium",
        "Department of Hospital Pharmacy, Erasmus MC, Rotterdam, the Netherlands"
      ],
      "name": "Karel Allegaert"
    },
    {
      "affiliations": [
        "Henan Provincial Key Laboratory of Children’s Genetics and Developmental Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Neurodevelopment Engineering Research Center, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan, China"
      ],
      "name": "Yaodong Zhang"
    },
    {
      "affiliations": [
        "Henan Provincial Key Laboratory of Children’s Genetics and Developmental Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Neurodevelopment Engineering Research Center, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan, China"
      ],
      "name": "Shuying Luo"
    },
    {
      "affiliations": [
        "Department of Laboratory Medicine, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China"
      ],
      "name": "Yang Fang"
    },
    {
      "affiliations": [
        "Department of Endocrinology, Genetics and Metabolism, Zhengzhou Children’s Hospital, Zhengzhou, Henan, China"
      ],
      "name": "Yongxing Chen"
    },
    {
      "affiliations": [
        "Department of Endocrinology, Genetics and Metabolism, Zhengzhou Children’s Hospital, Zhengzhou, Henan, China"
      ],
      "name": "Haiyan Wei"
    },
    {
      "affiliations": [
        "Henan Provincial Key Laboratory of Children’s Genetics and Developmental Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Neurodevelopment Engineering Research Center, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, Henan, China"
      ],
      "name": "Dongxiao Li"
    }
  ],
  "title": "Tumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study",
  "uid": "5a9d3c2b-7a18-5647-a5e3-7b8ef19e3f14"
}