Klinefelter Syndrome
Conditions
Keywords
Klinefelter, Fertility
Brief summary
Klinefelter syndrome occurs in 1 in 600 males and is a common cause of infertility in men. It appears scar tissue forms in these boys' testicles, leading to progressive destruction over their lifetimes. Advanced reproductive technology can be used to surgically retrieve sperm from these individuals, but these methods have a 50% failure rate in adult Klinefelter patients. Younger men have higher success rates, suggesting that adolescence and young adulthood may be the best time to extract sperm, but these techniques have not been studied in Klinefelter patients younger than 26 years of age. Additionally, there is currently no way to predict which Klinefelter patients will have success with these methods and which of them will not. This trial will explore sperm extraction in Klinefelter syndrome in an age range (12-25 years) that has never been studied, with the ultimate hope of improving the potential for fertility in these patients. The specific goals of this study are to determine the ideal age for sperm retrieval in Klinefelter patients and to establish factors that can be used to predict which of these patients will have a higher likelihood of success with advanced reproductive technology. The hypothesis is that younger Klinefelter patients will have higher sperm retrieval rates.
Interventions
PROCEDURETesticular Biopsy
Micro-dissection testicular sperm extraction for sperm retrieval
Sponsors
Boston Children's Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
MALE
Age
12 Years to 25 Years
Healthy volunteers
No
Inclusion criteria
* diagnosed 47,XXY (Klinefelter syndrome) * 12-25 years of age
Exclusion criteria
* testosterone therapy within past 6 months * history of surgery, injury, or infection in the testicle * solitary testicle
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Sperm retrieval rates based on age | Assessed at the end of the 6 month study period | Results of testicular biopsies will be reviewed for each patient during the 6 month study period |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Correlation between sperm retrieval rates and physical and biochemical markers | Assessed at the end of the 6 month study period | Results of testicular biopsies will be correlated to physical and biochemical markers for each patient after all of the data have been collected, during the 6 month study period. |
| Correlation between sperm retrieval rates and neurocognitive survey data | Assessed at the end of the 6 month study period | Results of testicular biopsies will be correlated to neurocognitive survey data for each patient after all of the data have been collected, during the 6 month study period. |
Countries
United States
Outcome results
None listed