scholarly journals Case of Inherited Partial AZFa Deletion without Impact on Male Fertility

2019 ◽  
Vol 2019 ◽  
pp. 1-5
Author(s):  
Baiba Alksere ◽  
Dace Berzina ◽  
Alesja Dudorova ◽  
Una Conka ◽  
Santa Andersone ◽  
...  

Male factor infertility accounts for 40–50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Here we report a case of a Caucasian man with partial AZFa region deletion from a couple with secondary infertility. Partial AZFa deletion, involving part of USP9Y gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against DDX3Y gene and exclude probably benign microdeletions involving only USP9Y gene.

2021 ◽  
Vol 30 (9) ◽  
pp. S8-S16
Author(s):  
Eleanor L Stevenson ◽  
Cheng Ching-Yu ◽  
Chang Chia-Hao ◽  
Kevin R McEleny

Male-factor infertility is a common but stigmatised issue, and men often do not receive the emotional support and the information they need. This study sought to understand awareness of male fertility issues compared to female fertility among the UK general male public, and also what were perceived as being the optimum methods for providing support for affected men, emotionally and through information. Men feel that male infertility is not discussed by the public as much as female infertility. Lifestyle issues that affect male fertility are not well understood, and men affected by infertility desire more support, including online, from health professionals and through peer support. Health professionals, including those in public health, could offer evidence-based programmes to reduce stigma and increase public knowledge about infertility, as well as offer emotional support to men with infertility problems.


2019 ◽  
Vol 37 (01) ◽  
pp. 005-011
Author(s):  
Amanda B. Reed-Maldonado ◽  
Kristin C. Madden

AbstractMale infertility is a condition that affects approximately 50% of infertile couples and about 30% of those couples have only male factor infertility identified. There has been speculation that male military service members may have an even greater lifetime prevalence of infertility as compared to the general population, but very few scientific publications focus on male factor infertility in the military population specifically. This review will discuss many of the unique considerations regarding male infertility in the military and highlight future opportunities for research. The military/federal health system has the potential to serve as a leader in both the delivery of health care for male factor infertility and in the clinical investigation into the etiologies of and treatments for male factor infertility.


2018 ◽  
Vol 39 (14) ◽  
pp. 3713-3731
Author(s):  
Kimiko Tanaka ◽  
Nan E. Johnson ◽  
Deborah Lowry

This study analyzes blogs about male-factor infertility posted on a Japanese blogsite on a certain day in April 2014. It focuses on an understudied topic and is the first study of Japanese male infertility based on blogs. The blog format afforded anonymity to the bloggers, and our sample of 97 adults yields the largest number of individual respondents of all cross-cultural studies cited in our literature review. We extract three major themes from the analysis of the blogs, offer suggestions for a redirection of family and infertility policy in Japan, and suggest lines for further research.


1994 ◽  
Vol 6 (1) ◽  
pp. 93 ◽  
Author(s):  
SJ Silber

It is archaic to view male factor infertility today separately from in vitro fertilization (IVF) and treatment of the female partner. Oligoasthenozoospermia may be an inherited condition (most likely on the Y chromosome), and is refractory to any treatment of the male including hormones and varicocelectomy. IVF technology is the only justifiable approach for achieving a pregnancy in these couples. The reasons for this view and the suggested modern approach to couples with oligoasthenozoospermia are outlined in this review. However, obstructive azoospermia is different as it can be successfully corrected with microsurgery in over 90% of men. When it cannot be corrected, as in congenital absence of vas, microsurgical sperm retrieval combined with IVF can still be highly effective in producing pregnancy with sperm from the husband. The most important arena for research into male infertility in the next decade will be to map out the deletions on the Y chromosome that might result in defective spermatogenesis, and which probably cause most cases of non-obstructive male factor infertility.


1999 ◽  
Vol 7 (2) ◽  
pp. 155-160 ◽  
Author(s):  
S Kulshrestha ◽  
A Makrigiannakis ◽  
P Patrizio

Approximately 30–40% of couples seeking fertility treatments have male factor infertility. Their dysfunctions include azoospermia, oligozoospermia, asthenozoospermia and teratozoospermia. Those with azoospermia represent about 25% of the total, and of these about 30% have an obstructive process while the remaining have either primary or secondary testicular failure. In the obstructive azoospermia group, 25% of males have congenital bilateral absence of the vas deferens (CBAVD).


2021 ◽  
Author(s):  
Berhe Tesfai ◽  
Fitsum Kibreab ◽  
Hailemichael Gebremariam ◽  
Liwam Abraham

Abstract Background Semen analysis is the first step to identify male factor infertility. World Health Organization estimates that male factor accounts for 50% of couple sub-fertility. The objective of this study was to determine the prevalence and patterns of male factor infertility based on semen analysis in patients visiting Massawa Hospital with infertility complaints. Methods It was a retrospective, descriptive cross sectional hospital based type of study with a census sampling method. Patient’s medical records and hospital laboratory register were used to retrieve semen analysis results of patients from June 2018 to June 2020. Ethical approval was obtained from the Ministry of Health Research and Ethical Review Committee. Confidentiality of patients records kept was secured and consent was obtained from study participants to use their data. Results were presented in frequency, tables and p value < 0.05 was considered significant. Results A total of 112 patients data was analyzed in the study with 49.1% were aged between 20 to 30 years. The prevalence of male factor infertility in these patients was found to be 42% and 79.5% of them had primary type of infertility. Of the study participants; 63 (56.3%), 72 (64.3%) and 70 (62.5%) had sperm count < 15 million sperms/ml, sperm motility < 40 % and morphology of < 60% respectively. One tenth, 15 (13.4%) of the patients had a semen volume of < 1.5ml/ejaculate, out of which 13(86.7%) had primary type of infertility. Moreover; 72 (64.3%) patients had total sperm count/ejaculate of < 39 million and 59 (82%) of these had primary type of infertility. In addition; 50.8% and 50% of patients aged 20 to 30 years had a sperm count < 15 million/ml and sperm motility of < 40% respectively. Conclusion The prevalence of male factor infertility was slightly higher and was dominated with primary infertility. Most patients had lower sperm count, sperm motility but higher semen volume, and majority of the patients with abnormal sperm results were aged between 20 to 30 years. Further prospective researches to determine the risk factors for male infertility and introducing assisted type of fertility in Eritrea are highly recommended.


F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 670 ◽  
Author(s):  
Jonathan Fainberg ◽  
James A. Kashanian

Infertility is a prevalent condition affecting an estimated 70 million people globally. The World Health Organization estimates that 9% of couples worldwide struggle with fertility issues and that male factor contributes to 50% of the issues. Male infertility has a variety of causes, ranging from genetic mutations to lifestyle choices to medical illnesses or medications. Recent studies examining DNA fragmentation, capacitation, and advanced paternal age have shed light on previously unknown topics. The role of conventional male reproductive surgeries aimed at improving or addressing male factor infertility, such as varicocelectomy and testicular sperm extraction, have recently been studied in an attempt to expand their narrow indications. Despite advances in the understanding of male infertility, idiopathic sperm abnormalities still account for about 30% of male infertility. With current and future efforts examining the molecular and genetic factors responsible for spermatogenesis and fertilization, we may be better able to understand etiologies of male factor infertility and thus improve outcomes for our patients.


Reproduction ◽  
2018 ◽  
Vol 156 (2) ◽  
pp. R9-R21 ◽  
Author(s):  
H M McSwiggin ◽  
A M O’Doherty

Infertility is an often devastating diagnosis encountered by around one in six couples who are trying to conceive. Moving away from the long-held belief that infertility is primarily a female issue, it is now recognised that half, if not more, of these cases may be due to male factors. Recent evidence has suggested that epigenetic abnormalities in chromatin dynamics, DNA methylation or sperm-borne RNAs may contribute to male infertility. In light of advances in deep sequencing technologies, researchers have been able to increase the coverage and depth of sequencing results, which in turn has allowed more comprehensive analyses of spermatozoa chromatin dynamics and methylomes and enabled the discovery of new subsets of sperm RNAs. This review examines the most current literature related to epigenetic processes in the male germline and the associations of aberrant modifications with fertility and development.


Author(s):  
Sachin Wankhede ◽  
Sarika Thakare ◽  
Nivedita Goverdhan ◽  
Santosh Shahane

Background: Infertility affects nearly 10-15% of couples and is an important part of clinical practice. Leading causes of infertility include tubal disease, ovulatory disorders, uterine or cervical factors, endometriosis and male factor infertility. The objective of the study was to find out different causes of female infertility with diagnostic laparoscopy.Methods: This was a descriptive study conducted from February 2012 to November 2013. 115 patients with infertility attending the infertility clinic in OPD of Obstetrics and Gynaecology were evaluated clinically with detailed history. The necessary investigations were carried out and the laparoscopic findings were documented.Results: There were 91 cases (79.13%) with primary infertility and 24 (20.87%) with secondary infertility. Laparoscopy revealed normal findings in 14 cases (15.38%) of primary infertility and 1 case (4.17%) of secondary infertility. Pelvic abnormality was found in 100 cases (86.95%). Tubal block was the most common pathology found in 36 cases (31.30%) followed by polycystic ovaries in 32 (27.83%) and adhesions in 24 (20.87%). Uterine anomalies were found in 3 cases (3.30%).Conclusions: Diagnostic laparoscopy is a valuable technique and a mandatory investigation, which, though invasive, is more convenient and more precise for the diagnosis of infertility. Because of its potential diagnostic as well as therapeutic benefits, all patients with infertility should undergo diagnostic laparoscopy as part of their primary workup of infertility.


2010 ◽  
Vol 93 (1) ◽  
pp. 1-12 ◽  
Author(s):  
Katherine L. O'Flynn O'Brien ◽  
Alex C. Varghese ◽  
Ashok Agarwal

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