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Genes Mar 2023Klinefelter syndrome (KS), caused by the presence of an extra X chromosome, is the most prevalent chromosomal sexual anomaly, with an estimated incidence of 1:500/1000... (Review)
Review
Klinefelter syndrome (KS), caused by the presence of an extra X chromosome, is the most prevalent chromosomal sexual anomaly, with an estimated incidence of 1:500/1000 per male live birth (karyotype 47,XXY). High stature, tiny testicles, small penis, gynecomastia, feminine body proportions and hair, visceral obesity, and testicular failure are all symptoms of KS. Endocrine (osteoporosis, obesity, diabetes), musculoskeletal, cardiovascular, autoimmune disorders, cancer, neurocognitive disabilities, and infertility are also outcomes of KS. Causal theories are discussed in addition to hormonal characteristics and testicular histology. The retrieval of spermatozoa from the testicles for subsequent use in assisted reproduction treatments is discussed in the final sections. Despite testicular atrophy, reproductive treatments allow excellent results, with rates of 40-60% of spermatozoa recovery, 60% of clinical pregnancy, and 50% of newborns. This is followed by a review on the predictive factors for successful sperm retrieval. The risks of passing on the genetic defect to children are also discussed. Although the risk is low (0.63%) when compared to the general population (0.5-1%), patients should be informed about embryo selection through pre-implantation genetic testing (avoids clinical termination of pregnancy). Finally, readers are directed to a number of reviews where they can enhance their understanding of comprehensive diagnosis, clinical care, and fertility preservation.
Topics: Infant, Newborn; Pregnancy; Child; Female; Humans; Male; Klinefelter Syndrome; Sperm Retrieval; Semen; Testis; Spermatozoa; Chromosome Aberrations
PubMed: 36980920
DOI: 10.3390/genes14030647 -
American Journal of Human Genetics Mar 2022Non-obstructive azoospermia (NOA) is a severe and frequent cause of male infertility, often treated by testicular sperm extraction followed by intracytoplasmic sperm...
Non-obstructive azoospermia (NOA) is a severe and frequent cause of male infertility, often treated by testicular sperm extraction followed by intracytoplasmic sperm injection. The aim of this study is to improve the genetic diagnosis of NOA, by identifying new genes involved in human NOA and to better assess the chances of successful sperm extraction according to the individual's genotype. Exome sequencing was performed on 96 NOA-affected individuals negative for routine genetic tests. Bioinformatics analysis was limited to a panel of 151 genes selected as known causal or candidate genes for NOA. Only highly deleterious homozygous or hemizygous variants were retained as candidates. A likely causal defect was identified in 16 genes in a total of 22 individuals (23%). Six genes had not been described in man (DDX25, HENMT1, MCMDC2, MSH5, REC8, TDRKH) and 10 were previously reported (C14orf39, DMC1, FANCM, GCNA, HFM1, MCM8, MEIOB, PDHA2, TDRD9, TERB1). Seven individuals had defects in genes from piwi or DNA repair pathways, three in genes involved in post-meiotic maturation, and 12 in meiotic processes. Interestingly, all individuals with defects in meiotic genes had an unsuccessful sperm retrieval, indicating that genetic diagnosis prior to TESE could help identify individuals with low or null chances of successful sperm retrieval and thus avoid unsuccessful surgeries.
Topics: Azoospermia; DNA Helicases; DNA-Binding Proteins; Humans; Male; Sperm Retrieval; Testis; Exome Sequencing
PubMed: 35172124
DOI: 10.1016/j.ajhg.2022.01.011 -
Translational Andrology and Urology Aug 2017Microdissection testicular sperm extraction (microTESE) is considered the gold standard method for surgical sperm retrieval among patients with non-obstructive... (Review)
Review
Microdissection testicular sperm extraction (microTESE) is considered the gold standard method for surgical sperm retrieval among patients with non-obstructive azoospermia (NOA). In this review, we will discuss the optimal evaluation of NOA patients and strategies to medically optimize NOA patients prior to microTESE. In addition, we will also discuss technical principles and pearls to maximize the chances of successful sperm retrieval, sperm retrieval rates (SRR) based upon testicular histology, predictors of successful sperm retrieval, gonadal recovery following microTESE, and potential complications.
PubMed: 28904907
DOI: 10.21037/tau.2017.07.07 -
Asian Journal of Urology Apr 2015The last 20 years have produced developments in the treatment for patients with non-obstructive azoospermia (NOA) who were once considered to be infertile. The... (Review)
Review
The last 20 years have produced developments in the treatment for patients with non-obstructive azoospermia (NOA) who were once considered to be infertile. The combination of intracytoplasmic sperm injection together with various testicular sperm retrieval techniques, including conventional testicular sperm extraction (TESE), microdissection TESE (micro-TESE) and fine needle aspiration (FNA), have revolutionized treatment for these men. In men with NOA, isolated regions of spermatogenesis within the testis are common. The goal for all types of sperm retrieval procedures is locating the focal region(s) of spermatogenesis, and harvesting the sperm for assisted reproduction. This review article explores the surgical management of men with NOA and describes all techniques that can be used for testicular sperm retrieval. A PubMed search was conducted using the key words: "sperm extraction", "NOA", "testicular FNA", "testicular mapping", "TESE", and "testicular biopsy". All articles were reviewed. Articles were included if they provided data on sperm retrieval rates. The methods for performing sperm retrieval rates and outcomes of the various techniques are outlined. Micro-TESE has a higher sperm retrieval rates with fewer postoperative complications and negative effects on testicular function compared with conventional TESE.
PubMed: 29264124
DOI: 10.1016/j.ajur.2015.04.018 -
Faculty Reviews 2021Infertility affects 1 in 6 couples, and male factor infertility has been implicated as a cause in 50% of cases. Azoospermia is defined as the absence of spermatozoa in... (Review)
Review
Infertility affects 1 in 6 couples, and male factor infertility has been implicated as a cause in 50% of cases. Azoospermia is defined as the absence of spermatozoa in the ejaculate and is considered the most extreme form of male factor infertility. Historically, these men were considered sterile but, with the advent of testicular sperm extraction and assisted reproductive technologies, men with azoospermia are able to biologically father their own children. Non-obstructive azoospermia (NOA) occurs when there is an impairment to spermatogenesis. This review describes the contemporary management of NOA and discusses the role of hormone stimulation therapy, surgical and embryological factors, and novel technologies such as proteomics, genomics, and artificial intelligence systems in the diagnosis and treatment of men with NOA. Moreover, we highlight that men with NOA represent a vulnerable population with an increased risk of developing cancer and cardiovascular comorbodities.
PubMed: 33659925
DOI: 10.12703/r/10-7 -
Reproductive Biology and Endocrinology... May 2020Patients with severe oligospermia and nonobstructive azoospermia have very limited numbers of viable sperm in their epididymal and testicular samples. Thus,... (Review)
Review
BACKGROUND
Patients with severe oligospermia and nonobstructive azoospermia have very limited numbers of viable sperm in their epididymal and testicular samples. Thus, cryopreservation of their sperm is performed to avoid repeated sperm retrievals and to preserve their sperm from any side effects of any treatment regimens.
MAIN BODY
The development of intracytoplasmic sperm injection technology has extended the therapeutic capacity of assisted reproductive technology for men with azoospermia via the surgical or percutaneous isolation of sperm from the testis/epididymis. The conventional cryopreservation techniques are inadequate for preserving individually selected sperm. The technique for freezing single sperm was first developed in 1997 and has been explored from the perspective of frozen carriers, freezing programs, and cryoprotectant formulations. Among these methods, advances in frozen carriers have directly improved single-sperm freezing technology. In this review, we evaluate the different technologies for the cryopreservation of single sperm by discussing the advantages and disadvantages of different freezing methods, their clinical applications, and the outcomes for a range of frozen carriers.
CONCLUSION
Our review article describes the latest and current technologies implemented for the cryopreservation of single sperm that could potentially benefit patients with severe oligospermia and who rarely have any sperm in their ejaculate. This review provides a platform to understand the process and pitfalls of single-sperm cryopreservation to ensure further improvements in the cryopreservation technology in future studies.
Topics: Cryopreservation; Cryoprotective Agents; Humans; Male; Semen Preservation; Sperm Injections, Intracytoplasmic; Sperm Retrieval; Spermatozoa
PubMed: 32398019
DOI: 10.1186/s12958-020-00607-x -
Translational Andrology and Urology Mar 2021In this review of Y chromosome microdeletions, azoospermia factor (AZF) deletion subtypes, histological features and microTESE sperm retrieval rates are summarized after... (Review)
Review
In this review of Y chromosome microdeletions, azoospermia factor (AZF) deletion subtypes, histological features and microTESE sperm retrieval rates are summarized after a systematic literature review. PubMed was searched and papers were identified using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Approximately half of infertile couples have a male factor contributing to their infertility. One of the most common genetic etiologies are Y chromosome microdeletions. Men with Y chromosome microdeletions may have rare sperm available in the ejaculate or undergo surgical sperm retrieval and subsequent intracytoplasmic sperm injection to produce offspring. Azoospermia or severe oligozoospermia are the most common semen analysis findings found in men with Y chromosome microdeletions, associated with impaired spermatogenesis. Men with complete deletions of azoospermia factor a, b, or a combination of any loci have severely impaired spermatogenesis and are nearly always azoospermic with no sperm retrievable from the testis. Deletions of the azoospermia factor c or d often have sperm production and the highest likelihood of a successful sperm retrieval. In men with AZFc deletions, histologically, 46% of men demonstrate Sertoli cell only syndrome on biopsy, whereas 38.2% have maturation arrest and 15.7% have hypospermatogenesis. The microTESE sperm retrieval rates in AZFc-deleted men range from 13-100% based on the 32 studies analyzed, with a mean sperm retrieval rate of 47%.
PubMed: 33850779
DOI: 10.21037/tau.2020.03.35 -
Asian Journal of Urology Apr 2015Nonobstructive azoospermia (NOA) is characterized by the complete absence of sperm in the ejaculate due to testicular failure. The evaluation and management of patients... (Review)
Review
Nonobstructive azoospermia (NOA) is characterized by the complete absence of sperm in the ejaculate due to testicular failure. The evaluation and management of patients with NOA offer a challenge to the reproductive urologist. In the era of fertilization with intracytoplasmic sperm injection, surgical sperm extraction techniques can afford men with NOA biologic paternity. To provide a comprehensive review of surgical sperm retrieval approaches in the patient with NOA emphasizing complications, success rates and outcome optimization, a Medline search was conducted querying surgical approaches used to manage NOA. Four sperm extraction techniques are described including: testicular sperm aspiration, testicular sperm extraction, fine needle aspiration mapping and microdissection testicular sperm extraction. In addition, the roles for pre-extraction varicocelectomy and sperm cryopreservation are discussed. The management of NOA continues to evolve as newer tools become available. Several modalities of sperm acquisition exist. An understanding of their complications and success rates is fundamental to the treatment of NOA.
PubMed: 29264125
DOI: 10.1016/j.ajur.2015.04.020 -
Asian Journal of Andrology 2022Nonobstructive azoospermia (NOA) refers to the failure of spermatogenesis, which affects approximately 1% of the male population and contributes to 10% of male... (Review)
Review
Nonobstructive azoospermia (NOA) refers to the failure of spermatogenesis, which affects approximately 1% of the male population and contributes to 10% of male infertility. NOA has an underlying basis of endocrine imbalances since proper human spermatogenesis relies on complex regulation and cooperation of multiple hormones. A better understanding of subtle hormonal disturbances in NOA would help design and improve hormone therapies with reduced risk in human fertility clinics. The purpose of this review is to summarize the research on the endocrinological aspects of NOA, especially the hormones involved in hypothalamic-pituitary-testis axis (HPTA), including gonadotropin-releasing hormone, follicle-stimulating hormone, luteinizing hormone, prolactin, testosterone, estradiol, sex hormone binding globulin, inhibin B, anti-Müllerian hormone, and leptin. For the NOA men associated with primary testicular failure, the quality of currently available evidence has not been sufficient enough to recommend any general hormone optimization therapy. Some other NOA patients, especially those with hypogonadotropic hypogonadism, could be treated with hormonal replacement. Although these approaches have succeeded in resuming the fertility in many NOA patients, the prudent strategies should be applied in individuals according to specific NOA etiology by balancing fertility benefits and potential risks. This review also discusses how NOA can be induced by immunization against hormones.
Topics: Azoospermia; Follicle Stimulating Hormone; Humans; Luteinizing Hormone; Male; Sperm Retrieval; Testis; Testosterone
PubMed: 35042310
DOI: 10.4103/aja202181 -
Indian Journal of Urology : IJU :... 2016Testicular sperm extraction (TESE) technique and intra-cytoplasmic sperm injection are breakthrough fertility treatments for men with nonobstructive azoospermia (NOA).... (Review)
Review
Testicular sperm extraction (TESE) technique and intra-cytoplasmic sperm injection are breakthrough fertility treatments for men with nonobstructive azoospermia (NOA). Newer advances such as the microdissection-TESE (micro-TESE) technique have continued to build upon past success by improving sperm retrieval and minimizing the postoperative complications compared to TESE. However, even with micro-TESE, sperm retrieval success has ranged from 40% to 60% due to the technique's dependence on surgeon and embryologist experience. While postoperative complications are minimal relative to the traditional TESE technique, testicular tissue must still be extracted without the knowledge of whether sperm are present in biopsies. In this review, we discuss the innovations in the surgical management of men with NOA and describe the novel experimental approaches that can improve sperm retrieval success.
PubMed: 26941489
DOI: 10.4103/0970-1591.173103