scholarly journals The Evidence for Fertility Preservation in Pediatric Klinefelter Syndrome

2021 ◽  
Vol 3 ◽  
Author(s):  
Celina J. Pook ◽  
Alessandra Cocca ◽  
Anna Grandone ◽  
Mohamed Al-Hussini ◽  
Wayne Lam

Klinefelter syndrome (KS) is a common cause of non-obstructive azoospermia (NOA). Advances in fertility preservation (FP) techniques, such as the use of microdissection testicular sperm extraction (micro-TESE), have improved sperm retrieval rates (SRR) up to 40–50% in this population. Age has been suggested to have an impact on FP, postulating that sperm production may deteriorate over time due to germ cell loss. As such, sperm retrieval for patients with KS at a younger age has been proposed to further improve SRR; however, whether such practice pragmatically improves SRR is yet to be determined, and controversy remains with concerns over trauma caused by FP procedures on further impairment of testicular function. There has also been a debate on the ethics of performing FP procedures in the pediatric population. Optimizing FP for patients with KS invariably requires a holistic multidisciplinary approach. This review aimed to evaluate the latest evidence in performing FP in pediatric patients with KS, and discuss the controversy surrounding such practice. Hormonal changes in patients with KS during childhood and the use of hormonal manipulation to optimize SSR in this population have also been reviewed.

Author(s):  
Omer Yumusak ◽  
Mehmet Cinar ◽  
Serkan Kahyaoglu ◽  
Yasemin Tasci ◽  
Gul Nihal Buyuk ◽  
...  

<p><strong>Objective:</strong> Non-obstructive azoospermia, defined as absence of spermatozoa in the ejaculate caused by impaired spermatogenesis, is the most severe cause of male infertility. It is typically presented as high serum follicle stimulating hormone levels and atrophic testis. The combination of intracytoplasmic sperm injection and Microdissection testicular sperm extraction allows these infertile men the opportunity to have their own children from their own testis. Our aim was to evaluate the outcomes of micro-Testicular sperm extraction in men with atrophic testis.</p><p><strong>Study Design:</strong> The medical records of 80 non-obstructive men with azoospermia who underwent micro-TESE were retrospectively evaluated. We assessed clinical parameters; age, duration of infertility, smoking, chromosomal karyotype, Y chromosome microdeletion, follicle stimulating hormone, luteinizing hormone, total testosterone and testicular volume in relation with Microdissection testicular sperm extraction results.</p><p><strong>Results:</strong> Testicular sperm retrieval rate was 53% in 80 patients. Testicular volume, serum follicle stimulating hormone and total testosterone concentrations showed correlation with the results of sperm retrieval. These three parameters were found to be significant risk factors with testicular sperm extraction negative patients (p&lt;0.001). The odds ratios (95% CI) were 6.39 (1.25–26.58), 1.24 (1.11-1.36), 1.13 (0.99-1.21) respectively. Testicular volume was found to be a discriminative parameter in patients with negative sperm retrieval. The cut-off point was established as 6.75 ml for testicular volume with 88.1% sensitivity, 62.1% specificity.</p><p><strong>Conclusion:</strong> Microdissection testicular sperm extraction is the most effective procedure for patients with non-obstructive azoospermia. Testicular volume, serum follicle stimulating hormone and testosterone levels can be predictive factors for sperm retrieval in men with non-obstructive azoospermia.</p>


2021 ◽  
Vol 10 (12) ◽  
pp. 2687
Author(s):  
Kaan Aydos ◽  
Oya Sena Aydos

Retrieving spermatozoa from the testicles has been a great hope for patients with non-obstructive azoospermia (NOA), but relevant methods have not yet been developed to the level necessary to provide resolutions for all cases of NOA. Although performing testicular sperm extraction under microscopic magnification has increased sperm retrieval rates, in vitro selection and processing of quality sperm plays an essential role in the success of in vitro fertilization. Moreover, sperm cryopreservation is widely used in assisted reproductive technologies, whether for therapeutic purposes or for future fertility preservation. In recent years, there have been new developments using advanced technologies to freeze and preserve even very small numbers of sperm for which conventional techniques are inadequate. The present review provides an up-to-date summary of current strategies for maximizing sperm recovery from surgically obtained testicular samples and, as an extension, optimization of in vitro sperm processing techniques in the management of NOA.


2021 ◽  
Vol 10 (15) ◽  
pp. 3323
Author(s):  
Evangelia Billa ◽  
George A. Kanakis ◽  
Dimitrios G. Goulis

Testicular sperm extraction (TESE) is a surgical procedure which, combined with intracytoplasmic sperm injection, constitutes the main treatment for achieving biological parenthood for patients with infertility due to non-obstructive azoospermia (NOA). Although it is effective, TESE procedures might cause structural testicular damage leading to Leydig cell dysfunction and, consequently, temporary or even permanent hypogonadism with long-term health consequences. To a lesser extent, the same complications have been reported for microdissection TESE, which is considered less invasive. The resulting hypogonadism is more profound and of longer duration in patients with Klinefelter syndrome compared with other NOA causes. Most studies on serum follicle-stimulating hormone and luteinizing hormone concentrations negatively correlate with total testosterone concentrations, which depends on the underlying histology. As hypogonadism is usually temporary, and a watchful waiting approach for about 12 months postoperative is suggested. In cases where replacement therapy with testosterone is indicated, temporary discontinuation of treatment may promote the expected recovery of testosterone secretion and revise the decision for long-term treatment.


2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
P Barros ◽  
M Cunha ◽  
A Barros ◽  
S Dória ◽  
M Sousa

Abstract Study question What are the clinical results of patients with azoospermia and nonmosaic Klinefelter syndrome, using fresh and cryopreserved sperm? Summary answer The results showed a recovery rate of testicular sperm in the order of 40% and a life newborn rate of 52% when using fresh sperm What is known already In Klinefelter syndrome (KS), the rates of successful testicular sperm retrieval were shown to be similar either using conventional TESE or micro-TESE (Corona et al., 2017), which highlights that the variability observed between studies is due to differences in patient characteristics. There are a few works with a large number of KS patients elucidating the clinical outcomes using fresh and cryopreserved testicular sperm. However, these studies revealed contradictory outcomes, either revealing better (Greco et al., 2013; Vicdan et al., 2016) or worst (Madureira et al., 2014) results with cryopreserved testicular sperm, or finding no differences (Chen et al, 2019). Study design, size, duration This study includes all patients up to 2019 presenting azoospermia due to non-mosaic Klinefelter syndrome (n = 76) that went for infertility consultations in a private fertility clinic. Patients were evaluated by the same Urologist. The genetic analysis of the patients was performed at an academic institution. At examination patients did not refer other complaints besides infertility, and referred to have not received any hormone replacement therapy in the past. Participants/materials, setting, methods The 76 azoospermic patients with non-mosaic Klinefelter syndrome (KS) were treated by testicular sperm extraction (TESE) followed by intracytoplasmic sperm injection (ICSI), using fresh and cryopreserved testicular sperm. Most patients used fresh testicular sperm, where others preferred to postpone ICSI treatment cycles and used cryopreserved testicular sperm. Aneuploidy screening in children was performed by prenatal diagnosis and MLPA (Multiplex ligation-dependent probe amplification). Full embryological, clinical and newborn outcomes are provided. Main results and the role of chance Of the 76 patients with non-mosaic Klinefelter syndrome, one repeated the testicular sperm extraction (TESE) procedure. Testicular sperm were recovered in 31/77 (40.3%) of the cases. Comparisons between the 31 cases with successful sperm recover (group–1) and the 46 cases without a successful TESE (group–2) revealed no significant differences regarding age, time of infertility, testicular volume, serum levels of FSH, LH and testosterone, total number of testicular fragments analyzed, and time of search in samples. The mean male age was 34 years. In most of the cases, the testicular volume was reduced (96.1%), the levels of FSH (98.3%) and LH (94.1%) were increased, and the levels of testosterone were normal (77.6%). There were 25 intracytoplasmic sperm injection (ICSI) treatment cycles using fresh testicular sperm and 22 ICSI treatment cycles using frozen testicular sperm. The rates of fertilization (63.5% fresh sperm vs 41.6% frozen sperm), implantation (37% fresh sperm vs 13.2% frozen sperm), clinical pregnancy (60.9% fresh sperm vs 19% frozen sperm), live birth delivery (52.2% fresh sperm vs 19% frozen sperm) and newborn (65.2% fresh sperm vs 23.8% frozen sperm) were higher in the group using fresh testicular sperm. Chromosome analysis of the 21 newborn was normal. Limitations, reasons for caution Although presenting a high number of cases with azoospermic non-mosaic Klinefelter syndrome treated with testicular sperm extraction and intracytoplasmic sperm injection, future studies are needed with a higher number of cycles using frozen testicular sperm, in order to confirm or rebut that the freezing methodology affects negatively the clinical outcomes. Wider implications of the findings: Data adds further information regarding testicular sperm retrieval rates and use of fresh or frozen testicular sperm in Klinefelter syndrome (KS) patients. High newborn rates were obtained only with fresh testicular sperm. Results also reassure KS patients about the safety relative to any abnormal chromosomal transmission to the born children. Trial registration number Not applicable


2021 ◽  
Author(s):  
Wei-Hsun Hsu ◽  
Marcelo Chen ◽  
Pai-Kai Chiang ◽  
Wei-Kung Tsai ◽  
Allen W Chiu ◽  
...  

Abstract The aim of the current study was to investigate the predictive markers for males with non-obstructive azoospermia (NOA) before they received conventional testicular sperm extraction (cTESE) or microdissection testicular sperm extraction (microTESE). Between January 2010 and December 2020, a total of 56 patients who received cTESE or microTESE surgery at the Urology department of the MacKay Memorial Hospital were included. Our univariate analysis revealed that the following parameters was associated with sperm retrieval: Follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin, testicular volume, histopathology of maturation arrest and Sertoli cell-only. The multivariate analysis showed that Sertoli cell-only was significantly less likely to harvest spermatozoa than normal spermatogenesis (OR = 0.03 (0.002-0.42); p = 0.01). A comparison of cTESE and microTESE revealed that the overall successful sperm retrieval rate was not significantly different between the two methods (74.1% vs. 58.6, p = 0.22). This study demonstrated that lower levels of FSH, LH and prolactin, and a higher testicular volume and better histopathology were associated with a higher sperm retrieval rate in the univariate analysis. In the multivariable analysis, only Sertoli cell-only syndrome appeared to have a significantly negative effect on the successful harvesting of sperm when compared with normal spermatogenesis.


Author(s):  
Pat Rohan ◽  
Niamh Daly ◽  
Aoife O’Kelly ◽  
Martin O’Leary ◽  
Tim Dineen ◽  
...  

Background: Microdissection testicular sperm extraction (mTESE) is the gold standard approach in sperm retrieval in men with non-obstructive azoospermia (NOA). The purpose of the study was to assess the outcomes for Irish men who have undergone mTESE with a single surgeon. Methods: This is a retrospective, single cohort study. Thirty-four patients underwent mTESE between September 2015 and June 2019. A p<0.05 was considered statistically significant. Results: In this study, sperm retrieval rate (SRR) was 47.06%. (16/34). The mean age in those who had retrieved sperm at mTESE was 37.9±2.6 years. Johnson Score (JS) and FSH were statistically different between successful and unsuccessful mTESE groups (p=0.017*10-5 and p=0.004, respectively). Optimal cutoff values for FSH, T and JS were 15 IU/L, 13 nmol/L and 5, respectively. The pregnancy rate was 63.64% (7/11) among men who went on to use mTESE sperm in an ICSI cycle. Conclusion: The combination of mTESE/Intracytoplasmic sperm injection (ICSI) is the best option available for men with NOA who prefer to achieve paternity using their own DNA. Given the overall SRRs in mTESE, it is imperative to continue research for a predictive model to better counsel azoospermic men regarding the use of mTESE. For this purpose, large, multicenter, randomized controlled trials are needed.


2020 ◽  
Vol 5 (1) ◽  
pp. p15
Author(s):  
Ghazi M. Al Edwan ◽  
Hammam H. Mansi ◽  
Ahmed Zuhier Al-Shalaby ◽  
Tareq Laith Al-Tell ◽  
Omar Nabeeh M. Atta ◽  
...  

Objective: This study was designed to evaluate the effect of letrozole 2.5 mg, an aromatase inhibitor, on the sperm retrieval rate (SRR) by the testicular sperm extraction (TESE) procedures that was done for the treatment of males with non-obstructive azoospermia (NOA).Materials and methods: Data was collected retrospectively from males diagnosed with non-obstructive azoospermia who underwent TESE procedure in the duration between May 2010 until June, 2018. The collected data includes the age of the patient, body mass index (BMI), testicular volume, hormonal profile (FSH LH, prolactin, testosterone), and the use of letrozole preoperatively. Logistic regression was done to address the association of these parameters to the sperm’s retrieval rate.Results: The study screaned 145 patients. Eighty patients fit the inclusion criteria and thus they were statistically analyzed. The use of letrozole was associated with negative TESE outcome (p=0.006), odd (0.154) CI 0.04-0.579. The other factors had no significant correlation to the TESE results.Conclusion: The evidence in this study showed an adverse effect of letrozole use on TESE results of those with high FSH.


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