Thyroid Function and Structure in Klinefelter Syndrome

NCT05581147 | Recruiting

• 1 other identifier: THINKS
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Klinefelter Syndrome; Thyroiditis, Autoimmune; Hypothyroidism

Keywords

Klinefelter syndrome; Hypothyroidism; Thyroiditis; Puberty; Prepuberty; Testosterone

Outcome Measures

Primary Outcomes (3)

• 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).

  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).

  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).

  Through study completion, an average of 6 years

Secondary Outcomes (8)

• Peripheral deiodinase 2 (DIO2) activity

  Through study completion, an average of 6 years

• Pituitary sensitivity sensitivity to thyroid hormones

  Through study completion, an average of 6 years

• Thyroid hormone resistance index

  Through study completion, an average of 6 years

• Thyroid volume

  Through study completion, an average of 6 years

• Quantitative thyroid echogenicity

  Through study completion, an average of 6 years

Study Arms (3)

Klinefelter syndrome

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).

Healthy controls

Euthyroid, age- and pubertal stage-matched males Subgroups according to pubertal stage: pre-pubertal, pubertal and adults.

Chronic lymphocytic thyroiditis

Adult males affected by chronic lymphocytic thyroiditis

Eligibility Criteria

• Age: 1 Year - 80 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study 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).

You may qualify if:

• 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.

You may not qualify if:

• 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).

Sponsors & Collaborators

• University of Roma La Sapienza: lead

Study Sites (1)

'Sapienza' University of Rome

Roma, 00161, Italy

RECRUITING

MeSH Terms

Conditions

Klinefelter Syndrome; Thyroiditis, Autoimmune; Hypothyroidism; Thyroiditis

Condition Hierarchy (Ancestors)

Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Thyroid Diseases; Autoimmune Diseases; Immune System Diseases

Study Officials

• Andrea M Isidori, MD, PhD

  andrea.isidori@uniroma1.it

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Andrea M Isidori, MD, PhD

CONTACT

0039649970711; andrea.isidori@uniroma1.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Full professor

Study Record Dates

• First Submitted: October 4, 2022
• First Posted: October 14, 2022
• Study Start: May 11, 2007
• Primary Completion: October 15, 2019
• Study Completion (Estimated): December 1, 2026
• Last Updated: March 30, 2025

Record last verified: 2024-02

Locations

IT (1)