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NCT Number: NCT06794190

Characterization of Hepatopathy in Turner Syndrome: Analysis of Determinants

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.

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Key information

Conditions

Turner Syndrome Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Heart Defects, Congenital Heart Diseases Male Urogenital Diseases Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Urogenital Abnormalities Urogenital Diseases

Age range

18 year and older

Sex eligibility

Female

Study type

Observational

Primary location

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, 40138, Italy

Location status: Recruiting

Location contact

Alessandra Gambineri, MD

CONTACT

[email protected]

+390512144628

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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).

Treatment and study plan

Primary outcomes

  1. Factors associated with hepatopathy

    Time frame: 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 outcomes

  1. Comparison of liver morpho-functional parameters with results obtained by fibroscan.

    Time frame: Baseline

    Liver stiffness measurement (kPa)

  2. Comparison of liver morpho-functional parameters with results obtained by fibroscan.

    Time frame: Baseline

    Spleen stiffnes measurement (kPa)

Study contacts

Contact information is provided by the study sponsor or research team.

Alessandra Gambineri, MD

CONTACT

[email protected]

+390512144628

Sponsors and collaborators

Lead sponsor

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Other

Registry information

Official study title

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

Important dates

Study start
2025
Primary completion
2026
Study completion
2026
First posted
Jan 27, 2025
Registry last updated
Jan 27, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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