An observational study in Klinefelter Syndrome, Thyroiditis, Autoimmune and Hypothyroidism, sponsored by University of Roma La Sapienza. Recruiting at 1 site in Italy. Open to male participants aged 1 Year to 80 Years. Per ClinicalTrials.gov, last updated 2025-03-30.
Sponsored by University of Roma La Sapienza · Observational
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.
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.
47 studies on the registry are indexed under Klinefelter Syndrome; 17 are open to participants now.
This study's planned enrollment of 600 is above the median of 300 across 27 observational studies indexed under Klinefelter Syndrome.
Browse Klinefelter Syndrome studies →University of Roma La Sapienza is the lead sponsor of 398 studies on the registry; 56 are open to participants now.
Counted across the registry records on this site, refreshed daily.
The study will enroll three cohorts of patients:
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Males affected by 47,XXY non-mosaic Klinefelter syndrome. Subgroups according to pubertal stage: pre-pubertal, pubertal and adults. Subgroups according to gonadal status: eugonadal, hypogonadal and receiving testosterone replacement therapy (TRT).
Euthyroid, age- and pubertal stage-matched males Subgroups according to pubertal stage: pre-pubertal, pubertal and adults.
Adult males affected by chronic lymphocytic thyroiditis
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 years
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 years
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 years
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 years
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 years
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 years
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 years
Quantitative thyroid echogenicity
The investigators will assess the ultraonographic thyroid echogenicity index, derived by the histogram mean of thyroid parenchyma in a standardized scan, normalized by the histogram mean of the pre-thyroid muscles.
Time frame: Through study completion, an average of 6 years
Thyroid echotexture (homogeneity)
The investigators will assess the ultrasonographic thyroid parenchymal echotexture via the analysis of Grey Levels Co-occurrence Matrices (GLCM) second-order parameter homogeneity (or IDM).
Time frame: Through study completion, an average of 6 years
Thyroid echotexture (entropy)
The investigators will assess the ultrasonographic thyroid parenchymal echotexture via the analysis of Grey Levels Co-occurrence Matrices (GLCM) second-order parameter entropy.
Time frame: Through study completion, an average of 6 years
In vitro assay of deiodinase type 2 (DIO2) activity
The investigators will assess in vitro modulation of DIO2 activity by sex hormones testosterone and 17-beta estradiol in a rat pituitary cell line (GH4C1) by using a thyroid hormone-responsive artificial promoter (TRE3Tk-Luc).
Time frame: At study end (May 2022).
Plan to share: Undecided
No publications or documents are linked to this record.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
Contact study teamGet an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
University of Roma La Sapienza →