Balancing sex hormones to improve health in men with Klinefelter syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This study aims to evaluate the effects of aromatase inhibitors on metabolic health and sperm production in men diagnosed with Klinefelter syndrome. It will compare the outcomes of hormone modulation with standard treatments, focusing on the balance of testosterone and estradiol. Additionally, the study will explore the impact of weight loss through semaglutide and the role of human chorionic gonadotropin in enhancing testosterone levels and fertility. A multi-omic analysis will also be conducted to understand the diverse reproductive and metabolic profiles in this population.

Why it matters

Who can join: the full rules

Inclusion Criteria:

-Diagnosis of Klinefelter syndrome (47,XXY or mosaicism)

Design 1:

* Age range: 16-40 years old
* Intention to become parent or interest in fertility preservation
* Confirmed azoospermia (lack of spermatozoids) after centrifugation of one semen sample

Design 2:

* Age range: 18-65 years old
* No interest in fertility or fertility preservation
* Hypogonadism at diagnosis or after wash-out of testosterone replacement therapy
* High metabolic risk defined as overweight (BMI 25-28 kg/m2) and insulin resistance (HOMA-IR \> 2.6)

Exclusion Criteria:

* Contraindications to testosterone-rising therapies (prostate or breast cancer, PSA \> 4 µg/l, active liver disease, symptomatic heart disease)
* Decreased life expectancy due to terminal disease
* Known or suspected non-compliance, drug or alcohol abuse
* Inability to follow the procedures of the study (language problems, severe psychological or mental disorders)

Where it's running

• Service of Endocrinology, Diabetes & Metabolism
  Lausanne, Switzerland Recruiting

Study contacts

• Principal investigator: Georgios Papadakis, Md — Service of endocrinology, diabetes & metabolism, CHUV, Lausanne University Hospital
• Study coordinator: Georgios Papadakis, Md
• Email: georgios.papadakis@chuv.ch
• Phone: +41795560308

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Testosterone treatment for boys with Klinefelter syndrome during puberty

  This study tests if giving testosterone gel to boys aged 10-14 with Klinefelter syndrome can help improve their growth, body health, and brain development during puberty.

  Recruiting Phase 4 Copenhagen University Hospital, Rigshospitalet · Copenhagen · NCT06294990

• Evaluating thyroid function and structure in Klinefelter syndrome

  This study is testing how well the thyroid works and looks in people with Klinefelter syndrome compared to healthy individuals and those with a specific thyroid condition.

  Recruiting University of Roma La Sapienza · Roma · NCT05581147

• Research on health and development in infants with sex chromosome trisomy

  This study looks at the health and development of infants with sex chromosome trisomies, like Klinefelter syndrome, to see how they grow and what early signs can help doctors provide better care.

  Recruiting at 2 sites University of Colorado, Denver · Aurora, Colorado and 1 other locations · NCT03396562

• Observing the health management of patients with rare genetic syndromes

  This study looks at how patients with rare genetic syndromes like Prader-Willi and Klinefelter manage their health as they move from children's care to adult care to see what support they need.

  Recruiting Erasmus Medical Center · Rotterdam, South Holland · NCT04463316

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.