Turner Syndrome and the Thyroid Function-A Systematic and Critical Review

Area of Science:

• Endocrinology
• Genetics
• Autoimmunity

Background:

• Turner syndrome (TS) is a genetic condition associated with a significantly higher prevalence of thyroid disorders compared to the general population.
• Understanding the specific thyroid abnormalities in TS is vital for effective patient management.

Purpose of the Study:

• To systematically review and critically evaluate thyroid function and autoimmunity in individuals with Turner syndrome.
• To assess the prevalence of thyroid diseases and associated markers in the TS population.

Main Methods:

• A comprehensive literature search was conducted across PubMed, Scopus, Google Scholar, and Cochrane Library up to July 2024.
• Keywords included "Turner syndrome", "autoimmune thyroid disorders", "TSH", "hypothyroidism", "anti-TPO", and "anti-Tg".
• Data on thyroid-stimulating hormone (TSH), triiodothyronine (TT3), and thyroxine (fT4, TT4) levels, as well as thyroid antibodies and ultrasound findings, were analyzed.

Main Results:

• Thyroid diseases are highly prevalent in patients with Turner syndrome.
• Women with TS exhibit elevated TSH levels and a higher frequency of positive thyroid antibodies.
• Characteristic thyroid ultrasound findings include heterogeneity with hypogenic or mixed echopatterns.

Conclusions:

• Early and consistent monitoring of thyroid hormone levels is essential for timely diagnosis and treatment of hypothyroidism in TS.
• The authors recommend implementing a structured thyroid screening program for Turner syndrome patients to prevent underdiagnosis and ensure prompt therapeutic intervention.