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Organoid Model to unravel Klinefelter Syndrome infertility
Klinefelter Syndrome (KS) is characterized by the presence of an extra chromosome X in male (47,XXY), it is the most frequent genetic cause of azoospermia in adult men. The investigators will isolate and expand spermatogonial cells from KS patients, then using an organoid model investigators will compare the behavior of these Spermatogonia from KS patients when interacting with four combinations of somatic cell types incorporated in the Extra Cellular Matrix hydrogel.
Men with Klinefelter Syndrome candidate for TESE or microTESE (testicular sperm extraction) for azoospermia.
One extra testicular biopsy (1-2 mm) will be cryopreserved and used later for the cells isolation and culture.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Infertile patients | Experimental | Infertile patients going to surgery for fertility preservation or infertility treatment at University Clinic Saint-Luc Brussels |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Testicular biopsy | Procedure | Testicular biopsy is a clinical procedure for extraction of testicular tissue |
|
| Measure | Description | Time Frame |
|---|---|---|
| Klinefelter's infertility physiopathology | Testicular biopsies will be digested using two steps enzymatic protocol. Cell suspensions will be in vitro cultured during 2 months. The following analyses will be performed: cells counts, cells characterisation by immunofluorescence and RTqPCR specific for the cell type, cells karyotypes. | Up to 60 days with intermediate time analyses at the 5th and 10 th passage of cultures. |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Christine Wyns, MD, PhD | Contact | +3227649501 | christine.wyns@uclouvain.be | |
| Maria Grazia Giudice, MD | Contact | +32485256903 | maria.giudice@uclouvain.be |
| Name | Affiliation | Role |
|---|---|---|
| Christine Wyns, MD, PhD | Cliniques Universitaires St Luc | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Cliniques Universitaires St Luc | Recruiting | Brussels | 1200 | Belgium |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39237101 | Derived | Giudice MG, Kanbar M, Poels J, Duquenne A, Wyns C. Long-term culture of human Sertoli cells from adult Klinefelter patients as a first step to develop new tools for unravelling the testicular physiopathology. Hum Reprod. 2024 Nov 1;39(11):2400-2410. doi: 10.1093/humrep/deae201. |
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| ID | Term |
|---|---|
| D007713 | Klinefelter Syndrome |
| D007248 | Infertility, Male |
| 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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| 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 |
| D005832 | Genital Diseases, Male |
| D000091662 | Genital Diseases |
| D007246 | Infertility |