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Related Experiment Video

Updated: May 17, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
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Liver involvement in Turner syndrome.

Dominique Roulot1

  • 1Unité d'Hépatologie, Hôpital Avicenne Bobigny, Bobigny, France.

Liver International : Official Journal of the International Association for the Study of the Liver
|November 6, 2012
PubMed
Summary

Adult Turner syndrome patients frequently experience liver test abnormalities, including steatosis and architectural changes. Oestrogen therapy is safe and may improve liver function, but regular liver enzyme screening is crucial for early detection.

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Area of Science:

  • Hepatology
  • Endocrinology
  • Genetics

Background:

  • Liver test abnormalities are common in adult Turner syndrome patients.
  • Pathophysiological mechanisms include metabolic disorders (steatosis, steatofibrosis, steatohepatitis) often linked to overweight.
  • Architectural changes (nodular regenerative hyperplasia, focal nodular hyperplasia, cirrhosis) and vascular disorders are also observed, increasing complication risks.

Purpose of the Study:

  • To review the spectrum of liver injuries in Turner syndrome.
  • To evaluate the safety and efficacy of oestrogen replacement therapy.
  • To recommend screening protocols for liver health.

Main Methods:

  • Literature review of liver pathologies in Turner syndrome.
  • Analysis of existing studies on oestrogen therapy in Turner syndrome patients.
  • Synthesis of data on liver enzyme screening recommendations.

Main Results:

  • Steatosis, steatofibrosis, and steatohepatitis are frequent, often due to metabolic issues and overweight.
  • Significant architectural changes and vascular abnormalities can lead to severe liver complications.
  • Oestrogen replacement therapy is not contraindicated in elevated liver enzymes and may improve liver function tests.

Conclusions:

  • Turner syndrome presents a wide range of potential liver injuries.
  • Regular liver enzyme screening is recommended for early detection and management.
  • Oestrogen therapy is safe and potentially beneficial for liver health in these patients.