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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Single arm | Experimental |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Testicular Biopsy | Procedure | Micro-dissection testicular sperm extraction for sperm retrieval |
|
| Measure | Description | Time Frame |
|---|---|---|
| Sperm retrieval rates based on age | Results of testicular biopsies will be reviewed for each patient during the 6 month study period | Assessed at the end of the 6 month study period |
| Measure | Description | Time Frame |
|---|---|---|
| Correlation between sperm retrieval rates and physical and biochemical markers | 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. | Assessed at the end of the 6 month study period |
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Inclusion Criteria:
Exclusion Criteria:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Boston Children's Hospital | Boston | Massachusetts | 02115 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 26746120 | Derived | Nahata L, Yu RN, Paltiel HJ, Chow JS, Logvinenko T, Rosoklija I, Cohen LE. Sperm Retrieval in Adolescents and Young Adults with Klinefelter Syndrome: A Prospective, Pilot Study. J Pediatr. 2016 Mar;170:260-5.e1-2. doi: 10.1016/j.jpeds.2015.12.028. Epub 2015 Dec 31. |
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| ID | Term |
|---|---|
| D007713 | Klinefelter Syndrome |
| ID | Term |
|---|---|
| D058533 | Sex Chromosome Disorders of Sex Development |
| D012734 | Disorders of Sex Development |
| D014564 | Urogenital Abnormalities |
| D052776 | Female Urogenital Diseases |
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| Correlation between sperm retrieval rates and neurocognitive survey data |
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. |
| Assessed at the end of the 6 month study period |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D025064 | Sex Chromosome Disorders |
| D025063 | Chromosome Disorders |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D006058 | Gonadal Disorders |
| D004700 | Endocrine System Diseases |
| D007006 | Hypogonadism |