Metabolic profiles of Turner syndrome: A real-world cohort study

Turner syndrome (TS), primarily characterized by premature ovarian insufficiency, is a disease resulting from a complete or partial absence of the second X chromosome. This study aims to describe the prevalence of metabolic comorbidities in TS patients of different ages and karyotypes.

The medical history, diagnosis, physical examination, laboratory examination and imaging examination data of 145 TS patients were obtained from the medical files.

(1) In total, 4.1% of the TS patients in this cohort were diagnosed with hypertension, and elderly patients had higher blood pressure. (2) 6.9% of patients were diagnosed with diabetes, and monosomic TS had a lower TyG index. (3) The prevalence of dyslipidemia and fatty liver was 20.0% and 16.7% respectively. TS patients treated with recombinant human growth hormone (rhGH) had significantly higher LDL-C and Apo-A1 levels. (4) The prevalence of hyperuricemia was 27.6%, and higher uric acid levels were observed in young patients and those receiving rhGH treatment. A total of 17.2% of patients were diagnosed with liver dysfunction. (5) The prevalence of low bone mass, which was higher in elderly patients and those without rhGH treatment, was 53.8% in TS patients older than 19 years.

TS patients have a higher prevalence of metabolic comorbidities, including dyslipidemia, fatty liver, hyperuricemia, liver dysfunction and low bone mass. RhGH treatment in childhood had some positive effects on glucose, lipid and bone metabolism in young adulthood. Therefore, additional attention should be given to metabolic comorbidities in TS patients at high risk.