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CBAVD infertility

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  1. Congenital bilateral absence of the vas deferens (CBAVD) is found in 1% to 2% of males with infertility and is present in 6% of obstructive azoospermia cases. Nearly 95% of men with cystic fibrosis (CF, an autosomal recessive disorder) have CBAVD. There are genetic links between CBAVD and CF
  2. FertilitySmarts Explains Congenital Bilateral Absence of Vas Deferens (CBAVD) CBAVD accounts for 1 to 2% of cases of infertility in men and around 6% of cases of obstructive azoospermia. The vas deferens is a part of the male reproductive tract that functions to transport sperm out of the testicles
  3. Congenital Bilateral Absence of Vas Deferens (CBAVD) is a condition where a male child is born without the vas deferens. The vas deferens are tubes that transport sperms out of the testes About 98% of males with a genetic condition, known as cystic fibrosis, are also known to have Congenital Bilateral Absence of Vas Deferens
  4. Congenital bilateral absence of the vas deferens (CBAVD) occurs in males when the tubes that carry sperm out of the testes (vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen
  5. Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen
  6. Congenital bilateral aplasia of the vas deferens (CBAVD), which leads to male infertility, may occur in isolation or as a manifestation of cystic fibrosis. Kaplan et al. (1968) found that males with cystic fibrosis are infertile because of failure of normal development of the vas deferens
  7. ation (Figure 3). Similar to CF, the rest of the wolffian duct system may also be abnormal and is largely unreconstructable

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Congenital bilateral absence of the vas deferens (CBAVD) accounts for at least 6 percent of cases of obstructive azoospermia and is responsible for 1 to 2 percent of cases of infertility in men.1.. It was discovered in 1968 that the reason for infertility in adult males with clinically recognized CF was an absence of both vasa deferentia. 5 Spermatogenesis is normal in such men, but vasal aplasia leads to obstructive azoospermia. CF is the most common lethal autosomal recessive disease found in people of Northern European descent Congenital absence of the vas deferens (CAVD) is a condition in which the vasa deferentia reproductive organs fail to form properly prior to birth. It may either be unilateral (CUAVD) or bilateral (CBAVD) Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities The condition of congenital bilateral absence of the vas deferens (CBAVD) is, in the majority of patients, related to defects in the cystic fibrosis transmembrane conductance regulator (CFTR) gene Most men with CF (97-98 percent) are infertile because of an absence of the sperm canal, known as congenital bilateral absence of the vas deferens (CBAVD). The sperm never make it into the semen, making it impossible for them to reach and fertilize an egg through intercourse

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Objective: To summarize the features and treatment of male infertility induced by autosomal dominant polycystic kidney disease (ADPKD), and compare the outcomes of intracytoplasmic sperm injection (ICSI) for infertile men with ADPKD and those with congenital bilateral absence of vas deferens (CBAVD). Methods: We retrospectively analyzed 21 cases of ADPKD-induced infertility, 15 treated by ICSI. Azoospermia is the reason in 20% infertility man [2] and the common reason of azoospermia is CBAVD [3], [4]. The purpose of the studies is using seminal fructose test to replace percutaneous epididymis sperm aspiration (PESA) to diagnosis CBAVD. Fructose is essential for spermatozoa metabolism and spermatozoa motility [5] CBAVD is detected in nearly 1 percent of male infertility patients. It's associated with azoospermia because the condition can prevent sperm from being transported through the vas deferens to.

Ultrasound in Male Infertility. In addition to increasing ultrasound frequency, various forms of Doppler may be utilized to enhance the diagnostic value of the imaging obtained. Power (i.e., color flow) Doppler refers to a form of pulse wave Doppler in which returning echoes are assigned a color (red if moving towards the probe, blue if moving. Congenital bilateral absence of the vas deferens (CBAVD) is a form of infertility with an autosomal recessive genetic background in otherwise healthy males. CBAVD is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations on both alleles in approximately 80% of cases Congenital bilateral absence of the vas deferens (CBAVD) is considered a genital form of cystic fibrosis (CF). It is generally identified during the evaluation of male infertility and is associated with a high incidence of mutated cystic fibrosis transmembrane conductance regulator (CFTR) alleles CBAVD represents the only male infertility-causing genetic mutation that can be detected on physical examination. Laboratory testing will demonstrate OA with normal gonadotropins and reproductive hormones. Comprehensive semen analysis will typically reveal no sperm with low ejaculate volume (<1 mL), low pH (<7), and reduced fructose level Clinical Information Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Male infertility can result from physical problems, hormone problems, and lifestyle or environmental factors.about a third of the time, infertility is because of a problem with the man

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Congenital Bilateral Absence of the Vas Deferens as an

almost all men with CBAVD have low semen volume and pH. There is a strong association between CBAVD and muta-tions of the CFTR gene (12). Almost all men with clinical cystic fibrosis have CBAVD. Conversely, at least three quar-ters of men with CBAVD have mutations of the CFTR gene (13). However, failure to identify a CFTR abnormality in Diagnosing infertility in men due to genetic abnormalities is a complex undertaking due to the wide range of genes involved in the production and transport of healthy sperm. Infertility researchers also are constantly identifying additional genetic anomalies contributing to male infertility. When examinations and the results of a man's semen analysis indicate deficiencies in sperm count. couples followed for infertility and for which azoospermia associated with congenital bilateral absence of the deferential canal (CBAVD) were found in men. There is a frequent association between CFTR and CBAVD abnormalities. CBAVD exists in almost all men with cystic fibrosis and causes an obstructive azoospermia that cannot be treated surgically

Congenital Bilateral Absence of Vas Deferens (CBAVD

The CFTR gene is probably not involved in the aetiology of Young's syndrome. Follow-up studies of children born to couples where the males have CBAVD, CUAVD or Young's syndrome are mandatory and will help to better define the risk to their offspring of CF and/or of inheriting their paternal infertility condition With CBAVD, the two vas deferens, the part of the male reproductive system that transports the sperm for ejaculation, fail to form properly prior to birth. If the vas deferens are absent, there may be an opportunity to retrieve sperm from the body surgically. CBAVD accounts for approximately 1 to 2 percent of all infertility in men and can be. and motility of sperm. Azoospermia is the reason in 20% infertility man [2] and the common reason of azoospermia is CBAVD [3], [4]. The purpose of the studies is using seminal fructose test to replace percutaneous epididymis sperm aspiration (PESA) to diagnosis CBAVD. Fructose is essential for spermatozoa metabolism and spermatozoa motility [5] Male infertility is due to the complete absence of sperm in the ejaculate and is relatively uncommon. (CBAVD). Normally, the vas deferens can be felt during a physical exam of the scrotum. In addition, almost all men with CBAVD will have a low volume of ejaculated fluid. The pH of the fluid will be more acidic than normal It has also been reported that CBAVD may be involved in other forms of infertility than CBAVD, however this has not always been confirmed in other studies. Because of techniques such as intracytoplasmic sperm injection, CBAVD patients are now able to father children, however such couples have an increased risk of having a child with cystic.

Congenital Bilateral Absence of Vas Deferen

Congenital bilateral absence of the vas deferens Genetic

  1. Infertility caused by cystic fibrosis is the result of a missing piece of the male reproductive system. The sperm canal, or vas deferens, is missing in most men with CF. This is also known as congenital bilateral absence of the vas deferens, or CBAVD
  2. Azoospermia is found in 10% of male infertility cases. Patients with OA, due to congenital bilateral absence of the vas deferens (CBAVD) or those in whom reconstructive surgery fails, have historically been considered infertile
  3. Abstract: Obstructive azoospermia (OA) is a rare cause of male infertility, with Congenital Bilateral Absence of The Vas Deferens (CBAVD) being a major cause.A wealth of literature has established an irrefutable link between CFTR mutations and CBAVD, with CBAVD affecting almost all men with cystic fibrosis (CF) disease and a significant portion of men that are CFTR mutation carriers

Congenital bilateral absence of the vas deferens

Many causes of infertility are treatable, and even patients with an etiology not amenable to surgical reconstruction or medical management, such as congenital bilateral absence of the vas deferens (CBAVD), have the opportunity to produce biologic offspring with sperm retrieval techniques performed in conjunction with IVF The CFTR gene may also be involved in the etiology of male infertility in cases other than CBAVD. The present study was conducted to identify the spectrum and frequency of CFTR gene mutations in infertile Indian males with non-CBAVD obstructive azoospermia (n=60) and spermatogenic failure (n=150) Genetic abnormalities can cause infertility. In men they can affect sperm production or how the sperm moves from the testicle to the semen. Here are three common genetic tests related to male infertility. Men with congenital bilateral absence of the vas deferens (CBAVD), which is when both vas.

Vas Deferens, Congenital Bilateral Aplasia Of; Cbav

What does CBAVD abbreviation stand for? List of 9 best CBAVD meaning forms based on popularity. Most common CBAVD abbreviation full forms updated in May 202 Infertility was due to nonobstructive azoospermia or oligozoospermia in 316 couples (26.4%), obstructive azoospermia (CBAVD) in 16 couples (1.3%), and disorders of the female partner in 93 couples. CBAVD is a congenital condition in which vas deferens fails to develop properly, causing male infertility because of the total obstruction of reproductive tract. CBAVD accounts for approximately 1-2% of all infertility in males and is the result of genetic abnormalities [ 9 ] A semen analysis is a necessary first step in assessing male fertility and the only test that is initially required for a male pursuing fertility treatment at most fertility clinics including CNY. A semen analysis looks at a man's: Sperm count or concentration of sperm per ml of semen. Total volume. PH level CBAVD is responsible for 1-2% of male infertility [1]. CBAVD was widely considered as an atypical symptom of cystic fibrosis (CF, MIM: #219700) [2,3], which was a severe recessive disease.

Male infertility refers to the man's inability to cause pregnancy in a fertile female. There may be no other obvious signs or symptoms. For a male to naturally conceive with a female, sperm cells need to reach and fertilize the eggs that are present in the female tract. Causes of male infertility can be one or more of the following Congenital bilateral absence of the vas deferens (CBAVD) is a relatively frequent cause of male infertility accounting for 1-2% of cases of male sterility and at least 6% of cases of obstructive azoospermia. In the last decade a genetic basis for CBAVD has been provided by its association with cystic fibrosis (CF) and nowadays CBAVD is in most cases considered to be a mild or incomplete form. One couple in 10 seeks medical help because of infertility. A 1982-85 multicentre study by the World Health Organization found that in 20% of cases the problem was predominantly male, in 38% the problem was predominantly female, in 27% abnormalities were found in both partners, and in the remaining 15% no clear-cut cause of infertility was identified.1 Diagnostic advances are progressively.

Apart from cystic fibrosis, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are also involved in congenital bilateral absence of the vas deferens (CBAVD). A mutation. Specifics of the Male Fertility Physical Exam. Some couples may prefer to leave the details of the exam to their health care provider. However, for those couples interested in a more in-depth discussion of the various aspects of the physical exam, this section can serve as a guide to what the doctor is looking for on the evaluation Among the 15% of couples who experience infertility, about 40% of the time the infertility is due to male factors. About half of male infertility cases are due to defined reasons, including varicocele, infection, hormone imbalances, exposures such as drugs or medications, x-rays, tobacco use and hot tubs, blockage of the reproductive tract ducts, and previous surgery that has left scarring

Download Citation | Genetics of CFTR and male infertility | Cystic fibrosis (CF) is a rare autosomal-recessive disorder manifested as multisystem organ dysfunction. The cystic fibrosis. Related to Male Infertility Cystic fibrosis gene mutations associated with CBAVD Chromosomal abnormalities resulting in impaired testicular function Y-chromosome microdeletions associated with isolated spermatogenic impairmen

Genetic tests routinely recommended in the evaluation of severe male factor infertility include karyotype, Y chromosome microdeletion analysis and cystic fibrosis transmembrane conductance regulator (CFTR) mutation analysis for men with congenital bilateral absence of the vas deferens (CBAVD) Pertinence and relatio nship to male infertility 72( suppl 1) :PS177. is discussed. Study suggesting that men with o bstructio n may have impaired 31.• Kleiman SE, Yo gev L, Gam zu R, et al. : Genetic evaluatio n o f spermato genesis as well. Twelve percent o f m en with CBAVD sho wed infertile m en Congenital bilateral absence of the ductus (vas) deferens (CBAVD) is an anatomical abnormality that leads to obstructive infertility in approximately 1% of infertile men. CBAVD is associated with two separate genetic defects, one of which is cystic fibrosis, a disorder involving both the respiratory and digestive systems The doctor usually refers such patients to an urologist for medical tests related to his infertility. Male reproductive experts prescribe tests to find out the reasons behind the infertility and how it might be cured. The causes of CBAVD are not conclusively known even after newest technologies in the department of urology has been introduced

Our Experience with Cystic Fibrosis & Male Infertility

Congenital Absence of the Vas Deferens - an overview

Cystic fibrosis is an illness best known for causing frequent lung infections and chronic breathing problems. However, it affects organs and tissues throughout the body, including the urogenital. CBAVD, formerly called congenital bilateral agenesis of the vas deferens, is found in 1% to 2% of infertile men and in most male CF pa-tients.33 An estimated 80% of all CBAVD pa-tients have been found to have mutations in the CFTR gene. The absence of the vas deferens often is overlooked by the first infertility investi Paternal Causes of Infertility and | (CBAVD), which is when men are born without the vas deferens (the tube that carries sperm from the testes to the urethra). This can sometimes happen if a male has a specific change in one of his genes related to cystic fibrosis

In fact, sperm production is normal in 90 percent of men with CF and CBAVD. The exact cause of CBAVD is unknown. But researchers think that the same gene mutations that cause the lung and pancreas problems with CF also cause these ducts to not form. CBAVD does not affect sexual performance or ability to make love CBAVD is now regarded as most commonly reflecting a mild form of cystic fibrosis in which only the reproductive tract anomalies are manifest without pulmonary or digestive symptoms. CBAVD can also probably occur as a result of Wolffian duct anomalies without evidence of cystic fibrosis gene mutations

Mutations in the Cystic Fibrosis Gene in Patients with

Male infertility is a multifactorial pathological condition affecting approximately 7% of the male population. CBAVD associated with agenesis of seminal vesicles is characterized by typical. In addition, most men with CBAVD can be assumed to have an abnormality of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. When indicated, efforts to identify genetic causes for infertility can have a major impact on the choice and outcome of treatment congenital obstruction (excluding CBAVD), microsur-gical reconstruction of the male reproductive tract may be the preferable alternative to sperm retrieval and ICSI when the female partner has normal fertility potential. EDO is rare in infertile men. If the diagnosis is confirmed or suspected based on transrectal ultrasonography find Approximately 40% of men with CUAVD and 50-80% of men with CBAVD have at least one mutation within the CF gene. Men with CBAVD or CUAVD who carry CF mutation(s) are at an increased risk for having children with infertility, or classical Cystic Fibrosis if the mother is also a carrier of a CF mutation The 5T allele is not a pathological variant. Everyone has one of these alleles in each CFTR gene, but there are a few different options—7T is the most common and doesn't interact badly with most CF variants, and 5T and 9T are the other ones I've read about. The 5T interacts with the W1282X mutation to cause CBAVD

Managing infertility due to absence of the vas deferen

That's the crazy thing about infertility, everyone has a slightly different journey and factors that are impacting them and their partner. Sometimes you hear women say they aren't a doctor, but they have a Ph.D. in infertility. This list of infertility acronyms is a great example of why it feels like we become experts in infertility process of spermatogenesis requires CFTR function but is less sensitive than CBAVD to mild CFTR deficiency. Lastly, deficiencies in sex hormones may also play a role in male infertility. An Australian study found lower levels of FSH, LH, and testosterone in CF compared with healthy adolescents matched for pubertal stage 16. This finding was not. Female infertility. Almost one third of women have problems with reproduction function. Infertility can be influenced by deregulations or severe illness. If endocrine profile is defective, chances to conceive decrease; this means that egg cells do not mature and ovulation does not happen, or a fertilized egg cell can not attach

Congenital absence of the vas deferens - Wikipedi

  1. the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane con- ductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely under- stood. Although patients with cystic fibrosis have muta- tions in both copies of the CFTR gene, most patients wit
  2. The CBAVD couple Patients with CBAVD have normal spermatogenesis. Since the introduction of MESA and IVF, it has become possible to successfully treat infertility in CBAVD (Silber et al, 1987, 1988, 1990; Patrizio et al, 1988). The success rates of the first attempts using conventional FVF were rather low (Silber et al, 1988, 1990)
  3. We learned that I have a condition called congenital bilateral absence of the vas deferens (CBAVD), which, as I mentioned, is common in males with CF and causes infertility. But this is also where we learned something new and something that was promising: Although I was officially unable to have children through natural means, this condition.
  4. Definition of Male Infertility. Infertility is a major medical issue in the United States. It affects approximately two to three million, or one in six, couples. Infertility is defined as the inability to conceive after one year of unprotected, adequately timed intercourse. Approximately one-third of the cases are related issues with the male.
  5. Genetic diseases: Cystic fibrosis, an inherited condition that typically involves the lungs and pancreas, but can present also as a cause of infertility with or without mild sinus problems; 6 to 10 percent of men with obstructive azoospermia have congenital bilateral absence of the vas deferens (CBAVD), which means they were born without the.
  6. The other major advance in the genetics of male infertility has emerged in patients with congenital bilateral absence of the vas deferens (CBAVD). 1-2% of infertile males have CBAVD.11 Sometimes several males in one family are affected in this way and a genetic basis for the disorder has been suspected. 95% of males with cystic fibrosis.
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The currently characterized chromosomal disorders and gene mutations that cause infertility in humans were reviewed. Of the four arbitrary compartments, genes expressed in the gonad comprise the most common site affected by mutations causing infertility. CBAVD must be ascertained in men with azoospermia because of the risk for having a. CBAVD is associated with male infertility and refers to bilateral hypoplasia or aplasia of the vas deferens and seminal vesicles. Men are typically azoospermic but have normal testicular function and spermatogenesis, and are therefore able to have biological children with assisted reproductive technology ( PMID : 21658649)

Congenital bilateral absence of vas deferens (CBAVD) is characterized by 'obstructive azoospermia' in male patients with primary infertility. In the routine clinical workup of infertile men, patients with an absence of vas deferens are screened for CFTR variants. However, current genetic testing panels do not cover all variants, missing some CBAVD cases Introduction. Congenital bilateral absence of the vas deferens (CBAVD), an autosomal recessive disorder, is a frequent cause of obstructive azoospermia and accounts for approximately 2-3% of male infertility in Caucasian populations infertility, semen analysis and possible diagnosis . abnormality . diferential diagnosis . volume . normal . ≥ 1.5 m. l CytoGenX Corp, a leading provider of medical genetic testing services, announced today it will be offering Assure™, its new comprehensive whole-genome microarray designed to aid in the detection and identification of disease-causing genetic alterations involved in prenatal and pediatric genetic diseases as well as cancer and infertility.. with congenital bilateral absence of the vas deferens (CBAVD) presenting with infertility (14-16). In addition, the 5-thymidine (5T) variant of the CFTR intron 8 polypyrimidine T-tract length is frequently present in men with CBAVD (17-19). The 5T variant causes less efficient splicing of CFTR exon 9 compare

CBAVD is a rare cause of male factor infertility, but represents the most common etiology of obstructive azoospermia (OA). CBAVD patients may exhibit epididymal atresia, seminal vesicle hypoplasia, and acidic ejaculate (pH <7.2) Male infertility: a clinical approach. Obstetrics and gynaecology may have had little or no exposure to addressing male infertility disorders. It is estimated that men contribute around 50% to overall infertility. 1 Therefore a thorough evaluation of the male partner is important. In particular asking questions regarding symptoms and conducting. The majority of men with cystic fibrosis are infertile. This is due to a structural condition called congenital bilateral absence of the vas deferens (CBAVD) that occurs in up to 98% of men with cystic fibrosis.. Typically, sperm develops in the testicles and moves into the epididymis, a tube attached to the testis Infertility in Men and Women Mary Goodman March 15, 2006 Infertility in Males Although men with Cystic Fibrosis still may have a great sex life, the majority of them are infertile. 99% of adult males with Cystic Fibrosis are characterized by congenital bilateral absence of vas deferens (CBAVD) Infertility support | MFI (CBAVD) ICSI IVF 5/2018 ️x6 FET 6/2018 FET 7/2020.

PPT - DNA analysis Molecular genetic testing for cystic

CBAVD is listed in the World's largest and most authoritative dictionary database of abbreviations and acronyms. CBAVD - What does CBAVD stand for? The Free Dictionary. (CBAVD) is the physiological basis of infertility in males with CF. Cystic fibrosis syndrome: a new paradigm for inherited disorders and implications for molecular. The European Association of Urology's guidelines on Male infertility (Jungwirth et al, 2012) stated that Men with congenital bilateral absence of the vas deferens [CBAVD] often have mild clinical stigmata of cystic fibrosis (CF) (e.g., history of chest infections) Medical Contribution By Dr. Melissa Esposito and Michael Tucker, Thirty percent of couples experience infertility related to a male factor, either alone or in combination with a coexisting female factor. For the affected couple, discovering that they need to seek assistance to get pregnant is often emotionally challenging. Men often react differently than women to [ CBAVD. Non-obstructive azoospermia. Sex chromosome aneuploidy. Oligospermia. Balanced translocation. Male factor infertility (%) 35. Genetic causes of infertility. Eneuploidy Rearrangements % of couples with balanced rearrangement with RPL. 4. Uterine causes of infertility. Cervical insufficienc The differential diagnosis between obstructive and nonobstructive azoospermia is the first step in the clinical management of azoospermic patients with infertility. It includes a detailed medical history and physical examination, semen analysis, hormonal assessment, genetic tests, and imaging studies. A testicular biopsy is reserved for the cases of doubt, mainly in patients whose history.

PPT - Male infertility Work up and Management overviewManagement of Male InfertilityBasic infertility rx 17Infertility [Dr

We screened 80 men with idiopathic azoospermia, 50 men with severe oligozoospermia, 70 men with oligoasthenoteratozoospermia, and 7 men with congenital bilateral absence of the vas deferens (CBAVD), as well as 95 controls from Slovenia, for mutations in 10 CFTR exons that include the majority of the most common cystic fibrosis (CF) disease. The most common diagnosis of male infertility is oligoasthenoteratozoospermia (OAT). In about 50% of couples who wish to have children, this reduced sperm quality of the man causes infertility. The drug therapy options for the olio-asthenoteteratozoospermia syndrome are complex and depend on the genetic cause Background: Congenital bilateral absence of vas deferens (CBAVD) is a form of male infertility in which mutations occur in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.The molecular basis of CBAVD is not completely understood, especially in developing countries. Methods: We characterized the mutations/variants in the CFTR gene by single strand conformation polymorphism. infertility can be found using routine diagnostic work-up in 10-15% of couples. A male contribution to infertility is found in 45-50% of the remaining cases [1]. In infertile couples, there is often a coincidence of male and female factors. Table 1 summarises the main factors associated with male infertility. In 30-45%, the cause of the. Hi everyone, just looking to see if anyone on here is going through the same thing my husband and I are right now. They diagnosed him with CBAVD and so he has to have a procedure to extract sperm from him $8000. On top of that he has to get tested for cystic fibrosis because CBAVD is caused by the same mutation that causes cystic fibrosis Male Factor Infertility. About one third of all infertility cases are due to male fertility issues - these can range from low sperm count, sperm abnormalities, hormonal imbalances, or problems related to the reproductive anatomy. Health and lifestyle factors such as stress, weight, and drug and alcohol consumption can also play a role

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