Thyroid Function and Structure in Klinefelter Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexMale
Age1-80
SponsorUniversity of Roma La Sapienza
About this trial
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 criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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).
Trial population
The study will enroll three cohorts of patients: * Patients with a confirmed diagnosis of classic, non-mosaic 47,XXY Klinefelter syndrome; * Males with a diagnosis of chronic lymphocytic thyroiditis (CLT); adult male patients affected by CLT, defined by positivity to anti-thyroglobulin antibodies (Ab-Tg) and/or anti-thyroperoxidase antibodies (Ab-TPO); * Euthyroid, healthy controls with no clinical signs or symptoms of thyroidal or testicular disease and meeting the same inclusion and exclusion criteria described above (except for KS diagnosis and availability of thyroid US in pre-pubertal and pubertal children).
Trial design
Design model
Cohort
Time perspective
Retrospective
Treatments tested in this trial
Not listed
Trial groups
600 Participants
are grouped into 3 trial groupsGroup A: Klinefelter syndrome
Group B: Healthy controls
Group C: Chronic lymphocytic thyroiditis
Trial outcomes
Primary outcomes
1
Peripheral blood TSH concentration
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).
Time frame
Through study completion, an average of 6 years2
Peripheral blood fT3 concentration
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).
Time frame
Through study completion, an average of 6 years3
Peripheral blood fT4 concentration
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).
Time frame
Through study completion, an average of 6 yearsSecondary outcomes
1
Peripheral deiodinase 2 (DIO2) activity
The investigators will derive the the fT3/fT4 ratio as a surrogate marker of peripheral deiodinase 2 (DIO2) activity.
Time frame
Through study completion, an average of 6 years2
Pituitary sensitivity sensitivity to thyroid hormones
The investigators will derive the fT4/TSH ratio as surrogate marker of pituitary sensitivity.
Time frame
Through study completion, an average of 6 years3
Thyroid hormone resistance index
The investigators will derive the TSH\*fT4 product as a surrogate marker of thyroid hormone resistance.
Time frame
Through study completion, an average of 6 years4
Thyroid volume
The investigators will assess ultrasonography-derived thyroid volume (in mL) by the sum of the left and right lobe volumes, derived by the ellissoid formula (d1 x d2 x d3 x 0,5233).
Time frame
Through study completion, an average of 6 yearsSponsors and contacts
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Source ClinicalTrials.gov