Characterization of Hepatopathy in Turner Syndrome: Analysis of Determinants

Recruiting

• Conditions: Turner Syndrome

• Registration Number: NCT06794190
• Lead Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna

Brief Summary

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.

Detailed 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.

Study Timeline

• Status Verified: 2024-12
• Study First Submitted: 2024-12-30
• Study Start: 2025-01-07
• Study First Submitted QC: 2025-01-24
• Last Update Submitted: 2025-01-24
• Study First Posted: 2025-01-27
• Last Update Posted: 2025-01-27
• Primary Completion: 2026-01-06
• Study Completion: 2026-01-07

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Female
• Target Recruitment: 120

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Factors associated with hepatopathy	Baseline	Hepatopathy, defined as the presence of at least one of the following conditions: * AST ≥ 35 UI/L; * ALT ≥ 35 UI/L; * GGT ≥ 38 UI/L; * ALP ≥ 116 UI/L; * Presence of hepatic steatosis

Secondary Outcome Measures

Name	Time	Method
Comparison of liver morpho-functional parameters with results obtained by fibroscan.	Baseline	Spleen stiffnes measurement (kPa)

Trial Locations

Locations (1)

IRCCS Azienda Ospedaliero-Universitaria di Bologna; 🇮🇹 Bologna, Italy