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Klinefelter Syndrome (KS) is the most common sex chromosomal abnormalities (1/600 newborn males), and is characterized by a hypergonadism hypogonadism. Until few years ago, mostly non-mosaic KS was considered as a model of a complete male infertility although few KS (4-8%) have an oligospermia. Recent studies in adult with non-mosaic KS reported the possibility of sperm retrieval by testicular biopsy (TESE) in around 50% cases and more than some pregnancies have been obtained after TESE with Intracytoplasmic Sperm Injection (ICSI). Since 1997, more than one hundred births are described.
As some studies shown a decrease of successful sperm retrieval with the increasing of age, we plan to compare the potential of sperm retrieval between two groups "adult" (23-55 years) and "young" after the onset of puberty (15-22 years). The study will be performed by searching spermatozoa on two seminal analyses spaced out 3 months followed by a testicular biopsy if the azoospermia is confirmed on semen analyses.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Young group | Experimental | Patient aged 15-22 years for seminal analyses and testicular biopsy |
|
| Adult group | Other | Patient aged 23-55 years for seminal analyses and testicular biopsy |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Seminal analyses and testicular biopsy | Procedure | Two seminal analyses spaced out 3 months followed by a testicular biopsy if the azoospermia is confirmed on semen analyses. |
|
| Measure | Description | Time Frame |
|---|---|---|
| TEsticular Sperm Extraction (TESE) | Improvement of sperm retrieval rate by Testicular Sperm extraction (TESE) in the "Young" group compare to "Adult" group. | 15 months |
| Measure | Description | Time Frame |
|---|---|---|
| Androgenotherapy | Influence of antecedent of androgenotherapy before Testicular Sperm extraction (TESE) : treatment or not, duration of treatment | 15 months |
| Prognosis factors | Identification of prognosis factors of sperm retrieval (by TESE) in the two groups "Young" and "Adult" |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Ingrid PLOTTON, MD | Hospices Civils de Lyon | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service de Biologie de la Reproduction - CECOS - Groupe Hospitalier Pellegrin | Bordeaux | 33076 | France | |||
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 25423570 | Result | Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H; FERTIPRESERVE group. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. J Clin Endocrinol Metab. 2015 Mar;100(3):961-7. doi: 10.1210/jc.2014-3083. Epub 2014 Nov 25. | |
| 36112034 |
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| ID | Term |
|---|---|
| D007713 | Klinefelter Syndrome |
| D053713 | Azoospermia |
| 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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| 15 months |
| Histopathologist analyses | Histopathologist analyses of testicular biopsy in the two groups "Young" and "Adult". In the 2 groups, comparison of cases with and without sperm. | 15 months |
| Service d'Endocrinologie Moléculaire et Maladies Rares, Centre de Biologie Est, Hospices Civils de Lyon |
| Bron |
| 69677 |
| France |
| Service de Biologie de la Reproduction - Hôpital de la Conception | Marseille | 13385 | France |
| Groupe de Médecine de la Reproduction - CECOS Midi-Pyrénées - Hôpital Paule de Viguier) | Toulouse | 31059 | France |
| Renault L, Labrune E, Giscard d'Estaing S, Cuzin B, Lapoirie M, Benchaib M, Lornage J, Soignon G, de Souza A, Dijoud F, Fraison E, Pral-Chatillon L, Bordes A, Sanlaville D, Schluth-Bolard C, Salle B, Ecochard R, Lejeune H, Plotton I. Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate, and AMH levels are higher when TESE is positive. Hum Reprod. 2022 Oct 31;37(11):2518-2531. doi: 10.1093/humrep/deac203. |
| 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 |
| D007248 | Infertility, Male |
| D005832 | Genital Diseases, Male |
| D000091662 | Genital Diseases |
| D007246 | Infertility |