Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome (KLIN-HEALTH)
Klinefelter Syndrome
About this trial
This is an interventional treatment trial for Klinefelter Syndrome focused on measuring Metabolic syndrome, Infertility, Aromatase, Testosterone/estradiol ratio, mTESE biopsy, GLP1 agonists
Eligibility Criteria
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 2 semen samples
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 severe overweight (BMI ≥ 28 kg/m2) or BMI 25-28 kg/m2 with 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)
Sites / Locations
- Service of Endocrinology, Diabetes & MetabolismRecruiting
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm 4
Arm 5
Arm 6
No Intervention
Experimental
Experimental
Active Comparator
Experimental
Experimental
Design 1 (Fertility) - positive micro-dissection testicular sperm extraction (mTESE) biopsy 1
Design 1 (Fertility) - negative mTESE biopsy 1, then randomized to Group A
Design 1 (Fertility) - negative mTESE biopsy 1, then randomized to Group B
Design 2 (Metabolic Risk) - randomized to Group C
Design 2 (Metabolic Risk) - randomized to Group D
Design 2 (Metabolic Risk) - randomized to Group E
Men with Klinefelter syndrome seeking fertility or interested in fertility preservation that undergo mTESE biopsy after wash-out of testosterone replacement therapy and have positive sperm retrieval (detectable spermatozoids)
Men with Klinefelter syndrome seeking fertility or interested in fertility preservation that undergo mTESE biopsy after wash-out of testosterone replacement therapy and have negative sperm retrieval (no detectable spermatozoids), subsequently randomized to receive an hormonal stimulation for 26 weeks
Men with Klinefelter syndrome seeking fertility or interested in fertility preservation that undergo mTESE biopsy after wash-out of testosterone replacement therapy and have negative sperm retrieval (no detectable spermatozoids), subsequently randomized to receive an hormonal stimulation for 26 weeks
Men with Klinefelter syndrome not interested in fertility that present with high metabolic risk and consent to a wash-out of testosterone replacement therapy. They are subsequently randomized to receive an hormonal treatment to improve metabolic health. This arm will receive an active comparator by a testosterone gel
Men with Klinefelter syndrome not interested in fertility that present with high metabolic risk and consent to a wash-out of testosterone replacement therapy. They are subsequently randomized to receive an hormonal treatment to improve metabolic health. This arm will receive an an experimental treatment
Men with Klinefelter syndrome not interested in fertility that present with high metabolic risk and consent to a wash-out of testosterone replacement therapy. They are subsequently randomized to receive an hormonal treatment to improve metabolic health. This arm will receive an an experimental treatment