scholarly journals Contribution of serum anti-Müllerian hormone in the management of azoospermia and the prediction of testicular sperm retrieval outcomes: a study of 155 adult men

2021 ◽  
Vol 31 (1) ◽  
Author(s):  
Hamza Benderradji ◽  
Julie Prasivoravong ◽  
François Marcelli ◽  
Anne-Laure Barbotin ◽  
Sophie Catteau-Jonard ◽  
...  
Keyword(s):  
Predictive Value ◽  
Klinefelter Syndrome ◽  
Serum Levels ◽  
Serum Concentrations ◽  
Negative Outcomes ◽  
Testicular Sperm ◽  
Sperm Retrieval ◽  
Adult Men ◽  
Caucasian Men ◽  
T Values

Abstract Background Testicular sperm extraction (TESE) is the method of choice for recovering spermatozoa in patients with azoospermia. However, the lack of reliable biomarkers makes it impossible to predict sperm retrieval outcomes at TESE. To date, little attention has been given to anti-Müllerian hormone (AMH) serum levels in adult men with altered spermatogenesis. In this study we aimed to investigate whether serum concentrations of AMH and the AMH to total testosterone ratio (AMH/T) might be predictive factors for sperm retrieval outcomes during TESE in a cohort of 155 adult Caucasian men with azoospermia. Results AMH serum levels were significantly lower in nonobstructive azoospermia (NOA) that was unexplained, cryptorchidism-related, cytotoxic and genetic (medians [pmol/l] = 30.1; 21.8; 26.7; 7.3; and p = 0.02; 0.001; 0.04; <0.0001, respectively]) compared with obstructive azoospermia (OA) (median = 44.8 pmol/l). Lowest values were observed in cases of genetic NOA (p < 0.0001, compared with unexplained NOA) and especially in individuals with non-mosaic Klinefelter syndrome (median = 2.3 pmol/l, p <0.0001). Medians of AMH/T values were significantly lower in genetic NOA compared to unexplained, cryptorchidism-related NOA as well as OA. Only serum concentrations of AMH differed significantly between positive and negative groups in men with non-mosaic Klinefelter syndrome. The optimal cut-off of serum AMH was set at 2.5 pmol/l. The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of this cut-off to predict negative outcomes of SR were 100 %, 76.9 %, 66.6 %, 100 and 84.2 %, respectively. Conclusions Serum AMH levels, but not AMH/T values, are a good marker for Sertoli and germ cell population dysfunction in adult Caucasian men with non-mosaic Klinefelter syndrome and could help us to predict negative outcomes of SR at TESE with 100 % sensitivity when serum levels of AMH are below 2.5 pmol/l.

P–038 Clinical outcomes of 77 testicular sperm extraction treatment cycles in non-mosaic Klinefelter syndrome patients

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
P Barros ◽  
M Cunha ◽  
A Barros ◽  
S Dória ◽  
M Sousa
Keyword(s):  
Clinical Outcomes ◽  
Intracytoplasmic Sperm Injection ◽  
Klinefelter Syndrome ◽  
Hormone Replacement ◽  
Testicular Volume ◽  
Testicular Sperm Extraction ◽  
Testicular Sperm ◽  
Sperm Retrieval ◽  
Aneuploidy Screening ◽  
Testicular Sperm Retrieval

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

scholarly journals How Successful Is Surgical Sperm Retrieval in Klinefelter Syndrome?

2021 ◽  
Vol 3 ◽  
Author(s):  
Yamini Kailash ◽  
Amr Abdel Raheem ◽  
Sheryl T. Homa
Keyword(s):  
Operative Time ◽  
Klinefelter Syndrome ◽  
Successful Outcome ◽  
Testicular Sperm Extraction ◽  
Success Rates ◽  
Testicular Sperm ◽  
Sperm Retrieval ◽  
Future Fertility ◽  
Reproductive Endocrine ◽  
The Impact

Klinefelter Syndrome (KS) is characterized by the presence of an extra X chromosome. It was first diagnosed in 1942 in a group of azoospermic men. KS is the most common chromosomal abnormality encountered in infertile men and accounts for more than 10% of the causes of azoospermia. Men who are azoospermic may still father children via testicular sperm extraction followed by intracytoplasmic sperm injection (ICSI). This review article summarizes the success rates of the available techniques for surgical sperm retrieval (SSR) in KS including conventional testicular sperm extraction (cTESE) and micro testicular sperm extraction (mTESE), as well as the risks of these procedures for future fertility. The evidence indicates that the SSR rate is as successful in non-mosaic men with KS as those with normal karyotypes, with retrieval rates of up to 55% reported. The influence of different factors that affect the chances of a successful outcome are discussed. In particular, the impact of aneuploidy rate, physical characteristics, co-morbidities, reproductive endocrine balance and the use of different hormone management therapies are highlighted. Evidence is presented to suggest that the single most significant determinant for successful SSR is the age of the patient. The success of SSR is also influenced by surgical technique and operative time, as well as the skills of the surgeon and embryology team. Rescue mTESE may be used successfully following failed TESE in KS patients in combination with hormone stimulation.

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