Exploring health quality in Turner and Klinefelter syndromes

Turner And Klinefelter Treatment Target Study. Improving Endocrine Treatment by Linking Biochemical Parameters to Morbidity and Quality of Life in Patients With Turner and Klinefelter Syndrome

Observational Erasmus Medical Center · NCT04803474

This study is trying to see how health-related quality of life is connected to hormone levels in adults with Turner Syndrome or Klinefelter Syndrome to find better treatment options.

Quick facts

Study typeObservational
Enrollment370 (estimated)
Ages18 Years and up
SexAll
SponsorErasmus Medical Center Academic / other
Locations1 site (Rotterdam, Zuid-Holland)
Trial IDNCT04803474 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate the relationship between health-related quality of life (HRQoL) and biochemical parameters in patients with Turner Syndrome (TS) and Klinefelter Syndrome (KS). By utilizing various questionnaires and biological measurements, including hormone levels in hair and blood values, the study seeks to identify optimal endocrine treatment targets that can enhance HRQoL. The study will involve patients aged 18 and older who have been genetically confirmed to have TS or KS, and will be conducted across multiple centers.

Who should consider this trial

Good fit: Ideal candidates for this study are adults aged 18 and older diagnosed with Turner or Klinefelter syndrome confirmed by genetic testing.

Not a fit: Patients with severe psychiatric or neurological disorders, or those unable to complete the questionnaires, may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved endocrine treatments that significantly enhance the quality of life for patients with Turner and Klinefelter syndromes.

How similar studies have performed: While the specific approach of this study is novel, previous studies have indicated a relationship between biochemical parameters and quality of life in similar patient populations.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

* Klinefelter or Turner syndrome as confirmed by genetic testing
* Sufficient knowledge of the Dutch language to complete the questionnaires
* At least 18 years old

Exclusion Criteria:

* KS: Patients not under treatment in the EMC, AMC or VUmc or no planned visits during the study period
* TS: No laboratory values or no questionnaires available in patient records
* Severe psychiatric or neurologic disorders or other reasons for inability to complete the questionnaires as assessed by the treating physician.
* Failure to obtain informed consent

Where this trial is running

Rotterdam, Zuid-Holland

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Klinefelter SyndromeTurner Syndrome
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.