Characterization of Hepatopathy in Turner Syndrome: Analysis of Determinants

Characterization of Hepatopathy in Turner Syndrome: Analysis of Determinants in an Observational Study

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.

Study Overview

• Status: Recruiting
• Conditions: Turner Syndrome

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 Type: Observational
• Enrollment (Estimated): 120

Contacts and Locations

• Study Contact: Name: Alessandra Gambineri, MD; Phone Number: +390512144628; Email: alessandra.gambineri@aosp.bo.it

Study Locations

• Italy
  • Bologna, Italy, 40138
    • Recruiting
    • IRCCS Azienda Ospedaliero-Universitaria di Bologna
    • Contact: Alessandra Gambineri, MD; Phone Number: +390512144628; Email: alessandra.gambineri@aosp.bo.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The study population will be enrolled from the cohort of adult TS patients under longitudinal monitoring at the U.O.C. of Endocrinology and Diabetes Prevention and Care IRCCS Policlinico S. Orsola.

Description

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 Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Factors associated with hepatopathy	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	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comparison of liver morpho-functional parameters with results obtained by fibroscan.	Liver stiffness measurement (kPa)	Baseline
Comparison of liver morpho-functional parameters with results obtained by fibroscan.	Spleen stiffnes measurement (kPa)	Baseline

Collaborators and Investigators

• Sponsor: IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Investigators: Principal Investigator: Alessandra Gambineri, MD, IRCCS Azienda Ospedaliero-Universitaria di Bologna

Study record dates

Study Major Dates

• Study Start (Actual): January 7, 2025
• Primary Completion (Estimated): January 6, 2026
• Study Completion (Estimated): January 7, 2026

Study Registration Dates

• First Submitted: December 30, 2024
• First Submitted That Met QC Criteria: January 24, 2025
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: January 24, 2025
• Last Verified: December 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases; Pathologic Processes; Male Urogenital Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Heart Diseases; Genetic Diseases, Inborn; Disease; Gonadal Disorders; Congenital Abnormalities; Cardiovascular Abnormalities; Heart Defects, Congenital; Disorders of Sex Development; Urogenital Abnormalities; Sex Chromosome Disorders; Chromosome Disorders; Sex Chromosome Disorders of Sex Development; Syndrome; Turner Syndrome; Gonadal Dysgenesis
• Other Study ID Numbers: LIVER_TS-2023

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No