Thyroid Function and Structure in Klinefelter Syndrome

Launched by UNIVERSITY OF ROMA LA SAPIENZA · Oct 11, 2022

Keywords

ClinConnect Summary

This clinical trial is studying how Klinefelter syndrome affects thyroid function and structure. Klinefelter syndrome is a genetic condition that affects males and is caused by an extra X chromosome. The researchers want to compare thyroid health in men with Klinefelter syndrome to that of healthy men and those with chronic lymphocytic thyroiditis, a condition where the immune system attacks the thyroid gland.

To participate in the study, men must have a confirmed diagnosis of Klinefelter syndrome and must have thyroid function test results or imaging available. They should not have other genetic conditions or have used certain medications that affect thyroid function. Participants will be asked to provide health information and may have their thyroid function monitored over time. This study aims to better understand thyroid health in men with Klinefelter syndrome, which could lead to improved care for those affected.

Gender

MALE

Eligibility criteria

• Inclusion Criteria:
• • Patients with a confirmed diagnosis of classic, non-mosaic 47,XXY Klinefelter syndrome based on a peripheral blood 97 karyotype analysis;
• • Availability of thyroid function test results (TSH, fT3, and fT4) and/or thyroid US imaging;
• • Availability of concurrent clinical data.
• Exclusion Criteria:
• • Presence of other known genetic conditions or chromosomal abnormalities;
• • Use of levothyroxine or other drugs that are either active on the hypothalamic-pituitary-thyroid (HPT) axis or that may interfere with thyroid function tests;
• • History of previous surgery or radiotherapy on the thyroid or pituitary glands;
• • Current or previous T therapy (for the pre-pubertal and pubertal groups).