Klinefelter Sendromlu Hastalarda Mikroskobik Testiküler Sperm Ekstraksiyonu: Tek Merkez Uzun Dönem Sonuçlarımız

Year 2024, , 115 - 120, 30.10.2024

Eyyup Sabri Pelit , Bülent Katı

https://doi.org/10.33719/nju1528976

Abstract

Giriş
Klinefelter sendromu (KS), yaklaşık 500-600 fenotipik erkekten 1'inde görülen bir sex kromozomu anormalliğidir. KS, infertil erkek hastaların %3'ünde, azospermik erkeklerin ise %11,9'una varan oranda mevcuttur. Mozaik olmayan (47,XXY) veya mozaik (47,XXY/46,XY) formlarda kendini gösterebilir ve hastaların %85’inde mozaik olmayan 47,XXY karyotip bulunur. KS hastalarında cerrahi sperm elde etme oranları ortalama %50 olup, %28- %69 aralığındadır.
Bu çalışmada non-mozaik KS hastalarında mikro-TESE sonuçlarımızı göstermeyi amaçladık.

Materyal Method

2017-2024 yılları arasında Harran Üniversitesi Üroloji Kliniğinde azopsermi ile başvuran ve KS tespit edilen 61 hastanın sonuçları retrospektif olarak tarandı. Tüm hastalardan FSH, LH, östrodiol, total testosteron (TT) bakıldı ve eşleri infertilite açısından jinekolojik olarak muayene edildi. Skrotal ultrasonografi ile testis boyutları kayıt altına alindi. Hastalar TESE pozitif ve negatif olmak üzere 2 gruba ayrıldı ve parametreler her iki grup içinde karşılaştırıldı.

Bulgular

Hastaların ortalama yaşı 29,0±5,1 olarak bulundu. Ortalama infertilite süresi 5,9 ± 4,1 yıldı. Sperm elde etme oranı %29,5 (18) olarak bulundu. Ortalama FSH, LH, prolkatin, östrodiol ve testoteron seviyeleri sırası ile 44,9 ıu/l, 23,3 ıu/l, 10 nmol/l, 31,4 pmol/dl, 219 ng/dl olarak tespit edildi. Hastaların 18’inde (%29,5) sperm elde edilirken, 43’ünde (%70,5) sperm elde edilememiştir. TESE pozitif ve negatif gruplar karşılaştırıldığında hasta yaşı, testiküler boyut, serum FSH, LH, prolaktin, östrodiol, testosteron düzeyleri ile sperm elde etme oranları arasında anlamlı bir korelasyon gözlemlenmedi (P>0,005).
Sonuç
Non-mozoaik klinefelter sendromlu hastalarda mikro-TESE yönteminin başarı oranını öngörmede hormon parametreleri, yaş ve infertilite süresi anlamlı olarak bulunmamıştır.

Keywords

klinefelter sendromu, mikroskopik testiküler sperm extraksiyonu, azospermi

Microscopic Testicular Sperm Extraction in Patients with Klinefelter Syndrome: Long-Term Outcomes from a Single Center

Abstract

Objective: Klinefelter syndrome (KS) represents a sex chromosome anomaly observed in approximately 1 in 500–600 phenotypic males. It is observed in 3% of infertile males and up to 11.9% of azoospermic males. KS manifests in either non-mosaic (47, XXY) or mosaic (47, XXY/46, XY) forms, with 85% of cases presenting as the non-mosaic 47, XXY karyotype. The average rate of surgical sperm retrieval in patients with KS is around 50%, ranging from 28% to 69%. In this study, we aimed to present the outcomes of microscopic testicular sperm extraction (micro-TESE) in patients with non-mosaic KS.
Materials and Methods: The results of 61 patients diagnosed with KS, who presented to the Harran University Urology Clinic with azoospermia between 2017 and 2024, were retrospectively reviewed. Hormonal assessments, including follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, and total testosterone (TT), were conducted for all patients, and their partners underwent gynecological evaluations for infertility. Testicular dimensions were recorded via scrotal ultrasonography. Patients were categorized into TESE-positive and TESE-negative groups, and parameters were compared between these groups.
Results: The mean age of the patients was 29.0±5.1 years, and their mean infertility duration was 5.9±4.1 years. The sperm retrieval rate was 29.5% (n=18). Mean levels of FSH, LH, prolactin, estradiol, and TT were 44.9 IU/L, 23.3 IU/L, 10 nmol/L, 31.4 pmol/dL, and 219 ng/dL, respectively. Sperm was retrieved in 18 patients (29.5%), while no sperm was obtained in 43 (70.5%). No significant correlation was observed between patient age, testicular size, serum levels of FSH, LH, prolactin, estradiol, and TT, and sperm retrieval rates when comparing the TESE-positive and TESE-negative groups (P>0.005).
Conclusion: In patients with non-mosaic KS, hormonal parameters, age, and infertility duration were not found to be significant predictors of the success of micro-TESE in sperm retrieval.

Keywords

klinefelter syndrome,, microscopic testicular sperm extraction, azoospermia

Ethical Statement

The study was initiated after approval was obtained from the Harran University Ethics Committee on 27.05.2024 with session number 07 and decision number 05.

References

• 1. Thoma ME, McLain AC, Louis JF, et al. Prevalence of infertility in the United States as estimated by thecurrent duration approach and a traditional constructed approach. Fertil Steril. 2013;99(5):1324-1331.e1. https:// doi.org/10.1016/j.fertnstert.2012.11.037
• 2. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter’s syndrome. Lancet. 2004;364(9430):273- 283. https://doi.org/10.1016/S0140-6736(04)16678-6
• 3. Visootsak J, Graham JM Jr. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1:42. Published 2006 Oct 24. https://doi. org/10.1186/1750-1172-1-42
• 4. Pozzi E, Boeri L, Capogrosso P, et al. Rates of hypogonadism forms in Klinefelter patients undergoing testicular sperm extraction: A multicenter crosssectional study. Andrology. 2020;8(6):1705-1711. https://doi.org/10.1111/andr.12843
• 5. Okada H, Goda K, Yamamoto Y, et al. Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter’s syndrome. Fertil Steril. 2005;84(6):1662-1664. https://doi.org/10.1016/j.fertnstert.2005.05.053
• 6. Ron-el R, Friedler S, Strassburger D, Komarovsky D, Schachter M, Raziel A. Birth of a healthy neonate following the intracytoplasmic injection of testicular spermatozoa from a patient with Klinefelter’s syndrome. Hum Reprod. 1999;14(2):368-370. https:// doi.org/10.1093/humrep/14.2.368
• 7. Tournaye H, Staessen C, Liebaers I, et al. Testicular sperm recovery in nine 47,XXY Klinefelter patients. Hum Reprod. 1996;11(8):1644-1649. https://doi. org/10.1093/oxfordjournals.humrep.a019462
• 8. Palermo GD, Schlegel PN, Sills ES, et al. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter’s syndrome. N Engl J Med. 1998;338(9):588- 590. https://doi.org/10.1056/NEJM199802263380905
• 9. Hinney B, Guttenbach M, Schmid M, Engel W, Michelmann HW. Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter’s karyotype. Fertil Steril. 1997;68(4):718-720. https://doi.org/10.1016/s0015-0282(97)00280-x
• 10. Bourne H, Stern K, Clarke G, Pertile M, Speirs A, Baker HW. Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter’s syndrome. Hum Reprod. 1997;12(11):2447-2450. https://doi.org/10.1093/ humrep/12.11.2447
• 11. Fullerton G, Hamilton M, Maheshwari A. Should nonmosaic Klinefelter syndrome men be labelled as infertile in 2009?. Hum Reprod. 2010;25(3):588-597. https://doi. org/10.1093/humrep/dep431
• 12. Corona G, Pizzocaro A, Lanfranco F, et al. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Hum Reprod Update. 2017;23(3):265-275. https://doi.org/10.1093/ humupd/dmx008
• 13. Mehta A, Paduch DA. Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. Fertil Steril. 2012;98(2):274-283. https:// doi.org/10.1016/j.fertnstert.2012.06.001
• 14. Guo F, Fang A, Fan Y, et al. Role of treatment with human chorionic gonadotropin and clinical parameters on testicular sperm recovery with microdissection testicular sperm extraction and intracytoplasmic sperm injection outcomes in 184 Klinefelter syndrome patients. Fertil Steril. 2020;114(5):997-1005. https://doi.org/10.1016/j.fertnstert.2020.05.043
• 15. A Majzoub , M Arafa , S Al Said , A Agarwal , A Seif , A Al Naimi , H El Bardisi . Outcome of testicular sperm extraction in nonmosaic Klinefelter syndrome patients: what is the best approach? Andrologia. 2016 Mar;48(2):171-6. https://doi.org/10.1111/and.12428.Epub 2015 May 1.
• 16. Ranjith Ramasamy , Joseph A Ricci, Gianpiero D Palermo, Lucinda Veeck Gosden, Zev Rosenwaks, Peter N Schlegel. Successful fertility treatment for Klinefelter’s syndrome. J Urol. 2009 Sep;182(3):1108-13. https://doi.org/10.1016/j.juro.2009.05.019. Epub 2009 Jul 18.
• 17. Deebel NA, Galdon G, Zarandi NP, et al. Age-related presence of spermatogonia in patients with Klinefelter syndrome: a systematic review and meta-analysis. Hum Reprod Update. 2020;26(1):58-72. https://doi. org/10.1093/humupd/dmz038
• 18. Okada H, Goda K, Yamamoto Y, et al. Age as a limiting factor for successful sperm retrieval in patients with nonmosaic Klinefelter’s syndrome. Fertil Steril. 2005;84(6):1662-1664. https://doi.org/10.1016/j.fertnstert.2005.05.053
• 19. Liu DF, Wu H, Zhang Z, Hong K, Lin HC, Mao JM, et al. Factors influencing the sperm retrieval rate of microdissection testicularsperm extraction in patients with nonmosaic Klinefelter syndrome. Asian J Androl. 2023 Nov 1;25(6):704-707. https://doi.org/10.4103/ aja2022124. Epub 2023 Mar 31.
• 20. Kei-Ichiro Uemura , Toshiyuki Iwahata , Hisamitsu Ide , Akiyoshi Osaka , Ippei Hiramatsu , Kouhei Sugimoto , et al. . Preoperative testosterone and follicle stimulating hormone levels are important predictors for sperm retrieval by microdissection testicular sperm extraction in non-mosaic Klinefelter syndrome. Andrologia. 2022 Dec;54(11):e14588. https://doi.org/10.1111/and.14588. Epub 2022 Sep 13.
• 21. Burak Özkan , Enis Rauf Coşkuner , Tansu Güdelci . Predictive Factors and Intracytoplasmic Sperm Injection Results for Sperm Retrieval by Microdissection Testicular Sperm Extraction (micro-TESE) in Patients with Klinefelter Syndrome. Urology. 202216:59-64. https://doi.org/10.1016/j.urology.2021.12.012. Epub 2021 Dec 29.
• 22. EAU Guidelines On Sexual And Reproductive Health. A. Salonia (Chair), C. Bettocchi, P. Capogrosso, J. Carvalho, G. Corona, M. Dinkelman-Smit, G. Hatzichristodouˇlo,U T.H. Jones, A. Kadioglu, J.I. Martinez-Salamanca, S. Minhas (Vice-Chair), E.C. Serefoglu, P. Verze Guidelines Associates: L. Boeri, A. Cocci, M. Falcone, M. Gül, A. Kalkanli, L.A. Morgado, U. Milenkovic, G. Russo Guidelines Office: C. Bezuidenhout, Ej. Smith. European Association of Urology 2024
• 23. Koga M, Tsujimura A, Takeyama M, Kiuchi H, Takao T, Miyagawa Y, et al. Clinical comparison of successful and failed microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndrome. Urology 2007;70:341-5. https://doi.org/10.1016/j. urology.2007.03.056