Evaluating thyroid function and structure in Klinefelter syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This longitudinal retrospective study aims to evaluate thyroid function and structure in patients with Klinefelter syndrome by comparing them to healthy controls and patients with chronic lymphocytic thyroiditis. The study will analyze peripheral hormone levels and ultrasonographic thyroid structure based on pubertal and gonadal status. Data will be collected from patients diagnosed with Klinefelter syndrome at the host institution, focusing on thyroid function tests and imaging results. The primary outcome will assess thyroid function through various hormone levels, while secondary outcomes will include detailed ultrasonographic parameters of thyroid structure.

Why it matters

Who can join: the full rules

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).

Where it's running

• 'Sapienza' University of Rome
  Roma, Italy Recruiting

Study contacts

• Principal investigator: Andrea M Isidori, MD, PhD — andrea.isidori@uniroma1.it
• Study coordinator: Andrea M Isidori, MD, PhD
• Email: andrea.isidori@uniroma1.it
• Phone: 0039649970711

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.