scholarly journals Reproductive Chances of Men with Azoospermia Due to Spermatogenic Dysfunction

2021 ◽  
Vol 10 (7) ◽  
pp. 1400
Author(s):  
Caroline Kang ◽  
Nahid Punjani ◽  
Peter N. Schlegel
Keyword(s):  
Intracytoplasmic Sperm Injection ◽  
Radiation Treatment ◽  
Genetic Disorders ◽  
Significant Proportion ◽  
Severe Form ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Infertile Men ◽  
Structural Abnormalities ◽  
Infection And Inflammation

Non-obstructive azoospermia (NOA), or lack of sperm in the ejaculate due to spermatogenic dysfunction, is the most severe form of infertility. Men with this form of infertility should be evaluated prior to treatment, as there are various underlying etiologies for NOA. While a significant proportion of NOA men have idiopathic spermatogenic dysfunction, known etiologies including genetic disorders, hormonal anomalies, structural abnormalities, chemotherapy or radiation treatment, infection and inflammation may substantively affect the prognosis for successful treatment. Despite the underlying etiology for NOA, most of these infertile men are candidates for surgical sperm retrieval and subsequent use in intracytoplasmic sperm injection (ICSI). In this review, we describe common etiologies of NOA and clinical outcomes following surgical sperm retrieval and ICSI.

scholarly journals Surgical sperm retrieval and intracytoplasmic sperm injection as treatment of obstructive azoospermia

1998 ◽  
Vol 13 (3) ◽  
pp. 620-623 ◽  
Author(s):  
G. R. Dohle ◽  
L. Ramos ◽  
M. H. Pieters ◽  
D. D. Braat ◽  
R. F. Weber
Keyword(s):  
Intracytoplasmic Sperm Injection ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval

scholarly journals Novel Variants in HFM1 Lead to Male Infertility Due to Non-obstructive Azoospermia

2021 ◽  
Author(s):  
Dongdong Tang ◽  
Mingrong Lv ◽  
Yang Gao ◽  
Huiru Cheng ◽  
Kuokuo Li ◽  
...  
Keyword(s):  
Male Infertility ◽  
Y Chromosome ◽  
Testicular Biopsy ◽  
Severe Form ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Gene Variation ◽  
Y Chromosome Microdeletions ◽  
Whole Exome

Abstract Background Non-obstructive azoospermia (NOA) is the most severe form of male infertility. More than half of the NOA patients were idiopathic for their etiology, in whom it’s difficult to retrieve sperm despite the application of microsurgical testicular sperm extraction (microTESE). Therefore, we conducted to this study to identify the potential genetic factors responsible for NOA, and investigate the sperm retrieval rate of microTESE for the genetic defected NOA.Methods One NOA patient from a consanguineous family (F1-II-1) and fifty NOA patients from non-consanguineous families were included in the study. Semen analyses, chromosome karyotypes, screening of Y chromosome microdeletions, sex hormone testing, and subsequent testicular biopsy were performed to categorize NOA or obstructive azoospermia. Potentialgenetic variants were identified by whole exome sequencing (WES),and confirmed by Sanger sequencing in F1 II-1. The candidate genes were screened in the other fifty NOA patients. Further experiments including quantitative real time-polymerase chain reaction and western blotting were performed to verify the effects of gene variation on gene expression.Results Normal somatic karyotypes and Y chromosome microdeletions were examined in all patients. Hematoxylin and eosin staining (H&E) of the testicular tissues suggested meiotic arrest, and a novel homozygous HFM1 variant (c.3490C>T: p.Q1164X) was identified in F1 II-1. Furthermore, another homozygous HFM1 variant (c.3470G>A: p.C1157Y) was also verified in F2 II-1 from the fifty NOA patients. Significantly decreased expression levels of HFM1 mRNA and protein were observed in the testicular tissues of these two mutants compared with controls. MicroTESE was performed in these two patients, while no sperm were retrieved. Conclusions Our study identified two novel homozygous variants of HFM1 that are responsible for spermatogenic failure and NOA, even microTESE can not contribute to retrieve sperm in these patients.

P–028 Single centre retrospective analysis of endocrine stimulation therapy prior to microsurgical testicular sperm retrieval (mTESE) in men with hypogonadism and non-obstructive azoospermia (NOA)

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
G Chiriaco ◽  
K Naylor ◽  
V Talaulikar ◽  
E Williamson ◽  
G Conway ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Success Rate ◽  
Retrospective Analysis ◽  
Klinefelter Syndrome ◽  
Serum Testosterone ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Infertile Men ◽  
Before And After

Abstract Study question What is the role of endocrine stimulation therapy prior to mTESE in men with hypogonadism and non obstructive azoospermia (NOA)? Summary answer In hypogonadal men there is a positive correlation between change of serum Testosterone (ΔT) before and after stimulation, and a successful mTESE. What is known already NOA is the most common cause of azoospermia and it is often associated with hypogonadism and testicular failure. It is common practice for endocrine stimulation therapies such as gonadotropines or selective estrogens receptor modulators to be used prior mTESE; however there is currently paucity of data regarding their efficacy. Study design, size, duration Retrospective analysis on infertile men with hypogonadism (defined as T < 12nmol/L) and NOA who underwent mTESE with or without prior endocrine stimulation therapy (clomiphene or human chorionic gonadotropin). Retrospective data from 2015–2020, total number of patient: 71; stimulated group (N:40) vs unstimulated group (N:31). Participants/materials, setting, methods Retrospective study on infertile men who underwent mTESE with or without prior endocrine stimulation therapy. Hypogonadism was defined as serum testosterone (T) level <12nm/L. We recorded demographic data, cause of testicular failure, previous testosterone therapy, duration and type of endocrine stimulation, pre-and post-stimulation hormone levels(T, FSH, LH), pre-operative hormone levels, successful sperm retrieval rate (at least 1 vial of viable sperm), average Johnsen score and total number of vials of sperm retrieved. Main results and the role of chance One-hundred-sixty-eight men underwent mTESE out of which 59 men received endocrine stimulation therapy for NOA between 2015–2020. Among them, we selected men with hypogonadism defined as serum T < 12nmol/L which comprised 43% of the entire patient cohort. The hypogonadal group included 71 men, 28/71 had Klinefelter syndrome and 40/71 received endocrine stimulation for 13.9±9.2 months. Testosterone levels significantly increased after endocrine stimulation (6.3±3.3nm/L vs 11.7±7.4nm/L) with mean change in serum testosterone (ΔT) of 5.7 nm/L (–5.5–23.3, N35). In the stimulated group, pre-operative serum T levels were significantly higher (11.7±7.4 vs 7.8±3.0 p:0.007) as compared to unstimulated men but the success rate of mTESE did not differ significantly (16/40–40%) vs 13/31–42%). Men with Klinefelter syndrome demonstrated significant differences with regards to age, lower T levels, higher FSH and LH levels, lower Johnsen score and success rates compared to other causes of NOA. Comparing men who had successful mTESE vs unsuccessful mTESE - higher T and lower FSH and LH seemed to correlate with successful sperm retrieval. Among men who received endocrine stimulation therapy the ΔT before and after stimulation seemed to correlate with successful sperm retrieval (AUC:0.701, SE:0.089, p:0.043). In the stimulated group a ΔT>3.5nm/L showed a significant association with successful mTESE(p:0.041). Limitations, reasons for caution Retrospective study limitations. Wider implications of the findings: Our study shows a significant improvement of serum T following endocrine stimulation therapy. Overall, in hypogonadal men, the hormonal stimulation seems not to be related to a higher success rate of mTESE but our data do suggest a positive correlation between ΔT before and after stimulation, and a successful mTESE. Trial registration number Not applicable

scholarly journals Novel variants in helicase for meiosis 1 lead to male infertility due to non-obstructive azoospermia

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Dongdong Tang ◽  
Mingrong Lv ◽  
Yang Gao ◽  
Huiru Cheng ◽  
Kuokuo Li ◽  
...  
Keyword(s):  
Male Infertility ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Factors ◽  
Testicular Biopsy ◽  
Severe Form ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Whole Exome

Abstract Background Non-obstructive azoospermia (NOA) is the most severe form of male infertility; more than half of the NOA patients are idiopathic. Although many NOA risk genes have been detected, the genetic factors for NOA in majority of the patients are unknown. In addition, it is difficult to retrieve sperm from these patients despite using the microsurgical testicular sperm extraction (microTESE) method. Therefore, we conducted this genetic study to identify the potential genetic factors responsible for NOA and investigate the sperm retrieval rate of microTESE for genetically deficient NOA patients. Methods Semen analyses, sex hormone testing, and testicular biopsy were performed to categorize the patients with NOA. The chromosome karyotypes and Y chromosome microdeletion analyses were used to exclude general genetic factors. Whole exome sequencing and Sanger sequencing were performed to identify potential genetic variants in 51 patients with NOA. Hematoxylin and eosin staining (H&E) and anti-phosphorylated H2AX were used to assess the histopathology of spermatogenesis. Quantitative real time-polymerase chain reaction, western blotting, and immunofluorescence were performed to verify the effects of gene variation on expression. Results We performed whole exome sequencing in 51 NOA patients and identified homozygous helicase for meiosis 1(HFM1) variants (NM_001017975: c.3490C > T: p.Q1164X; c.3470G > A: p.C1157Y) in two patients (3.9%, 2/51). Histopathology of the testis showed that spermatogenesis was completely blocked at metaphase in these two patients carrying the HFM1 homozygous variants. In comparison with unaffected controls, we found a significant reduction in the levels of HFM1 mRNA and protein expression in the testicular tissues from these two patients. The patients were also subjected to microTESE treatment, but the sperms could not be retrieved. Conclusions This study identified novel homozygous variants of HFM1 that are responsible for spermatogenic failure and NOA, and microTESE did not aid in retrieving sperms from these patients.

A modification of Johnson score as predictive value of sperm retrieval in non-obstructive azoospermia infertile men

2019 ◽  
Author(s):  
Silvia W. Lestari ◽  
Debby Aditya ◽  
Gita Pratama ◽  
Kanadi Sumapradja ◽  
Ria Margiana
Keyword(s):  
Predictive Value ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Infertile Men

scholarly journals Role of microsurgical varicocelectomy in the management of non-obstructive azoospermia with varicocele: our tertiary care centre experience

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Avinash P. S. Thakur ◽  
Darsan Sadasivan ◽  
Vivek Sharma ◽  
Vasantharaja Ramasamy ◽  
Subeesh Parol ◽  
...  
Keyword(s):  
Live Birth ◽  
Intracytoplasmic Sperm Injection ◽  
Birth Rate ◽  
Live Birth Rate ◽  
Testicular Sperm Extraction ◽  
Obstructive Azoospermia ◽  
Sperm Retrieval ◽  
Modest Improvement ◽  
Retrieval Rate

Abstract Background Varicocele is an abnormal dilation and tortuosity of the internal spermatic veins within the pampiniform plexus of the spermatic cord. Varicocele is associated with progressive testicular damage and infertility. Azoospermia is associated with a varicocele in approximately 4–14% cases. For men with azoospermia or severe oligoasthenospermia, varicocele repair may result in modest improvement in semen quality which may have a significant advantage on couple’s fertility options. The aim of the study was to evaluate the role of microsurgical varicocelectomy in the men of non-obstructive azoospermia (NOA) with clinical varicocele. Methods This was a retrospective study conducted between August 2012 and January 2017, a backward review of 104 patients with the diagnosis of infertility and NOA with palpable varicocele that underwent microsurgical varicocelectomy at our institution was performed. In addition, microdissection testicular sperm extraction (MDTESE) results of these post-varicoceletomy patients were compared with the patients of NOA without varicocele. Results A total of 104 patients underwent varicocelectomy; out of these, 19 patients (18.26%) had sperm on sperm analysis post-operatively. Two of them had spontaneous pregnancy (10.5%), and 3 had children by intracytoplasmic sperm injection (15.78%). Out of the 85 patients who had MDTESE, 29 patients (34.11%) had sperms in their testis. The fertilization rate was 89.65%. Sperm retrieval rate (SRR) in NOA men with varicocele was 34.11% which was higher from those who had NOA without varicocele (24.03%). Live birth rate was 31.03% in NOA men who had varicocelectomy which was more in comparison to NOA men without varicocele (24%). Conclusions In NOA men with varicocele microsurgical varicocelectomy may have favourable effects which results in recovery of motile sperms in the post-operative ejaculate and also on spontaneous or assisted pregnancies, but it appears that this effect was more remarkable on MDTESE results when following successful intracytoplasmic sperm injection. Importantly, Sperm retrieval rate, pregnancy rate and subsequent live birth rate were higher in these patients in comparison to patients affected by NOA alone. In patients with NOA and coexisting varicocele, varicocelectomy can be considered to be essential to the overall reproductive outcome in these patients.

scholarly journals Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility

2019 ◽  
Author(s):  
Margot J. Wyrwoll ◽  
Şehime G. Temel ◽  
Liina Nagirnaja ◽  
Manon S. Oud ◽  
Alexandra M. Lopes ◽  
...  
Keyword(s):  
Male Infertility ◽  
Missense Variant ◽  
Severe Form ◽  
Obstructive Azoospermia ◽  
Loss Of Function ◽  
Meiotic Arrest ◽  
Infertile Men ◽  
Turkish Family ◽  
Cell Arrest ◽  
Biallelic Mutations

AbstractMale infertility affects ∼7% of men in Western societies, but its causes remain poorly understood. The most clinically severe form of male infertility is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis, but so far only few genes have been reported to cause germ cell arrest in males. To address this gap, whole exome sequencing was performed in 60 German men with complete meiotic arrest, and we identified in three unrelated men the same homozygous frameshift variant c.676dup (p.Trp226LeufsTer4) in M1AP, encoding meiosis 1 arresting protein. Then, with collaborators from the International Male Infertility Genomics Consortium (IMIGC), we screened a Dutch cohort comprising 99 infertile men and detected the same homozygous variant c.676dup in a man with hypospermatogenesis predominantly displaying meiotic arrest. We also identified two Portuguese men with NOA carrying likely biallelic loss-of-function (LoF) and missense variants in M1AP among men screened by the Genetics of Male Infertility Initiative (GEMINI). Moreover, we discovered a homozygous missense variant p.(Pro389Leu) in M1AP in a consanguineous Turkish family comprising five infertile men. M1AP is predominantly expressed in human and mouse spermatogonia up to secondary spermatocytes and previous studies have shown that knockout male mice are infertile due to meiotic arrest. Collectively, these findings demonstrate that both LoF and missense M1AP variants that impair its protein cause autosomal-recessive meiotic arrest, non-obstructive azoospermia and male infertility. In view of the evidence from several independent groups and populations, M1AP should be included in the growing list of validated NOA genes.

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