This is a longitudinal retrospective study for the evaluation of thyroid function and structure in patients with Klinefelter syndrome compared to healthy controls and patients affected by chronic lymphocytic thyroiditis.
Eligibility
Sex
MALE
Min age
1 Year
Max age
80 Years
Healthy volunteers
No
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).
Primary outcome measure(s)
Peripheral blood TSH concentration — Through study completion, an average of 6 years Thyroid function will be assessed by peripheral blood TSH levels, taking into account pubertal status (pre-pubertal, pubertal and adult subjects) as well as to gonadal status (eugonadal subjects, hypogonadal subjects and subjects receiving TRT).
Peripheral blood fT3 concentration — Through study completion, an average of 6 years Thyroid function will be assessed by peripheral blood free T3 (fT3) levels, taking into account pubertal status (pre-pubertal, pubertal and adult subjects) as well as to gonadal status (eugonadal subjects, hypogonadal subjects and subjects receiving TRT).
Peripheral blood fT4 concentration — Through study completion, an average of 6 years Thyroid function will be assessed by peripheral blood free T4 (fT4) levels, taking into account pubertal status (pre-pubertal, pubertal and adult subjects) as well as to gonadal status (eugonadal subjects, hypogonadal subjects and subjects receiving TRT).
Trial sites (1)
Facility
City
Region
Status
'Sapienza' University of Rome
Roma
Italy
Recruiting
More University of Roma La Sapienza trials in Italy
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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