{
  "abstract": "Background Liver abnormalities are recognised in Turner syndrome (TS), but most data come from adult cohorts describing metabolic, cholangiopathic, vascular and autoimmune phenotypes. Paediatric data are scarce. We aimed to characterise liver involvement, imaging findings and metabolic associations in a paediatric TS cohort at a single tertiary centre.Methods A retrospective review of TS patients aged <18 years referred to the liver service between 2001 and 2025 was performed. Clinical, biochemical and imaging data were extracted from records, including age, karyotype, BMI zscores, liver biochemistry, autoantibodies, ultrasound, CT/MRI, liver biopsy, growth hormone (GH) therapy, metformin use and hormone replacement therapy (HRT). Neonatal conjugated jaundice cases were classified within a cholangiopathic/early bile duct phenotype. Liver phenotypes were defined as metabolic (steatosis or elevated ALT/AST/GGT), autoimmune (ANA or SMA positivity), cholangiopathic (neonatal conjugated cholestasis or bileduct abnormalities), and vascular/nodular (FNH/NRH/vascular lesions), allowing overlap.Results Nineteen children were included (median age 11.0 years; range 0.03–18.0; median BMI 24.3 kg/m2; range 14.8–39.2). Three had documented cardiac anomalies; 10/19 were receiving GH, 9/19 HRT and 3/19 metformin. Overall, 12/19 (63%) had abnormal liver function tests. Steatosis was present on ultrasound in 47% and persisted on followup imaging in half, clustering with higher BMI zscores/hypertriglyceridaemia. Three children had lowtitre ANA and/or SMA positivity with abnormal transaminases; in all, liver biopsy showed only mild, nonspecific changes. Four children met cholangiopathic criteria- three with neonatal conjugated hyperbilirubinaemia (resolved), and one with bile duct–related imaging changes (MDR3 heterozygous). No focal nodular hyperplasia, nodular regenerative hyperplasia or vascular lesions were identified.Conclusions In this paediatric TS cohort, biochemical abnormalities and steatosis were frequent and predominantly metabolic, whereas vascular or nodular lesions were not seen, suggesting these may develop later. Lowtitre autoantibodies appeared incidental. Longitudinal linkage of paediatric and adult cohorts is needed to define the natural history of TSrelated liver disease and guide counselling and surveillance.References N/A",
  "authors": [
    {
      "affiliations": [
        "Paediatric Liver, GI and Nutrition Centre, King’s College Hospital"
      ],
      "name": "Sinead Cunningham"
    },
    {
      "affiliations": [
        "Paediatric Liver, GI and Nutrition Centre, King’s College Hospital"
      ],
      "name": "Sanjay Bansal"
    },
    {
      "affiliations": [
        "Paediatric Liver, GI and Nutrition Centre, King’s College Hospital",
        "Childrens Health Ireland, Crumlin, Ireland"
      ],
      "name": "Emer Fitzpatrick"
    },
    {
      "affiliations": [
        "Paediatric Liver, GI and Nutrition Centre, King’s College Hospital",
        "Roger Williams Institute of Liver Studies",
        "Faculty of Life Sciences and Medicine, King’s College London"
      ],
      "name": "Eirini Kyrana"
    }
  ],
  "title": "LBA17 Liver involvement in paediatric turner syndrome: a single-centre cohort study",
  "uid": "64062191-2511-537c-ab01-9577d5b5a7db"
}