Thyroid Function and Structure in Klinefelter Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Klinefelter Syndrome, Thyroiditis, Autoimmune, Hypothyroidism. Basic parameters: 1 year — 80 years · Male.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Thyroid Function and Structure in Klinefelter Syndrome (THINKS)
Overview
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.
Detailed description
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 (CLT).
The investigators will retrospectively enroll patients with Klinefelter syndrome followed at the host institution and will retrieve data with regards to peripheral hormone levels (thyroid function) and ultrasonographic appearance (thyroid structure) according to pubertal status and gonadal status. Data will be compared with male age- and pubertal stage-matched euthyroid controls, as well as with male patients affected by CLT.
The primary outcome will be the thyroid function compared to healthy controls, by the assessment of peripheral blood TSH, free T3 (fT3) and free T4 (fT4) levels according to pubertal status (pre-pubertal, pubertal and adult subjects) as well as according to gonadal status (eugonadal subjects, hypogonadal subjects and subjects receiving testosterone replacement therapy \[TRT\]).
Secondary Outcome Measures will be:
Thyroid function indexes (fT3/fT4 ratio, fT4/TSH ratio, TSH\*fT4 product)
Quantitative ultrasonographic thyroid structure parameters, comprising: thyroid volume and echogenicity index, as well as the echotexture parameters of homogeneity and entropy evaluated by Gray Levels Co-occurrence Matrices (GLCM).
In vitro assay of testosterone and estradiol effects on deiodinase type 2 (DIO2) activity in a rat pituitary cell line.
Primary outcome measures
- Peripheral blood TSH concentration [Time frame: Through study completion, an average of 6 years]
- Peripheral blood fT3 concentration [Time frame: Through study completion, an average of 6 years]
- Peripheral blood fT4 concentration [Time frame: Through study completion, an average of 6 years]
Secondary outcome measures (8)
- Peripheral deiodinase 2 (DIO2) activity [Time frame: Through study completion, an average of 6 years]
- Pituitary sensitivity sensitivity to thyroid hormones [Time frame: Through study completion, an average of 6 years]
- Thyroid hormone resistance index [Time frame: Through study completion, an average of 6 years]
- Thyroid volume [Time frame: Through study completion, an average of 6 years]
- Quantitative thyroid echogenicity [Time frame: Through study completion, an average of 6 years]
- Thyroid echotexture (homogeneity) [Time frame: Through study completion, an average of 6 years]
- Thyroid echotexture (entropy) [Time frame: Through study completion, an average of 6 years]
- In vitro assay of deiodinase type 2 (DIO2) activity [Time frame: At study end (May 2022).]
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).
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 1 center
- 'Sapienza' University of Rome — Roma
Identifiers
NCT: NCT05581147 · THINKS