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Characterization of Hepatopathy in Turner Syndrome: Analysis of Determinants

Characterization of Hepatopathy in Turner Syndrome: Analysis of Determinants

Recruiting
18 years and older
Female
Phase N/A

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Overview

The present study is therefore aimed at investigating the prevalence of hepatic alterations (laboratory and imaging) in adult patients with TS and generating hypothesissto the possible etiopathogenetic factors most involved, as well as evaluating the correlation between biochemical and structural abnormalities.

Thus, the study could provide relevant etiopathogenetic and prognostic results on the development of hepatopathy in TS patients.

Description

The study is an observational retrospective cohort type; patients with TS in longitudinal monitoring at the U.O.C. of Endocrinology and Diabetes Prevention and Care, DIMEC, of IRCCS Policlinico S. Orsola of Bologna will be enrolled. The diagnosis of TS was made for most patients by the Pediatrics unit of Policlinico S. Orsola; in rare cases it was performed in adulthood by our operating unit or at another center; in all cases, the diagnosis was made by karyotype analysis on peripheral blood.

The patients, as per clinical practice, underwent clinical evaluation with measurement of anthropometric parameters; an evaluation of the patients' medical history will be performed, paying attention to possible diagnosis of metabolic comorbidities and autoimmune diseases. Complete information regarding the history of menstrual cycles and replacement therapies used will also be collected. Finally, laboratory investigations are planned.

Eligibility

Inclusion Criteria:

  • Diagnosis of Turner syndrome made by karyotype analysis on peripheral blood.
  • Age 18 years or older
  • Written informed consent obtained

Exclusion Criteria:

  • TS patients on therapy with drugs responsible for significant liver enzyme alterations (liver function alteration, LFA).

Study details
    Turner Syndrome

NCT06794190

IRCCS Azienda Ospedaliero-Universitaria di Bologna

15 October 2025

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