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Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Protozoan parasitic diseases are endemic in many countries worldwide, especially in developing countries, where infertility is a major burden. It has been reported that such infections may cause infertility through impairment in male and female reproductive systems. We searched Medline, PubMed, and Scopus databases and Google scholar to identify the potentially relevant studies on protozoan parasitic infections and their implications in human and animal model infertility. Literature described that some of the protozoan parasites such as Trichomonas vaginalis may cause deformities of the genital tract, cervical neoplasia, and tubal and atypical pelvic inflammations in women and also non-gonoccocal urethritis, asthenozoospermia, and teratozoospermia in men. Toxopalasma gondii could cause endometritis, impaired folliculogenesis, ovarian and uterine atrophy, adrenal hypertrophy, vasculitis, and cessation of estrus cycling in female and also decrease in semen quality, concentration, and motility in male. Trypanosoma cruzi inhibits cell division in embryos and impairs normal implantation and development of placenta. Decrease in gestation rate, infection of hormone-producing glands, parasite invasion of the placenta, and overproduction of inflammatory cytokines in the oviducts and uterine horns are other possible mechanisms induced by Trypanosoma cruzi to infertility. Plasmodium spp. and Trypanosoma brucei spp. cause damage in pituitary gland, hormonal disorders, and decreased semen quality. Entamoeba histolytica infection leads to pelvic pain, salpingitis, tubo-ovarian abscess, and genital ulcers. Cutaneous and visceral leishmaniasis can induce genital lesion, testicular amyloidosis, inflammation of epididymis, prostatitis, and sperm abnormality in human and animals. In addition, some epidemiological studies have reported that rates of protozoan infections in infertile patients are higher than healthy controls. The current review indicates that protozoan parasitic infections may be an important cause of infertility. Given the widespread prevalence of parasitic protozoa diseases worldwide, we suggest further studies to better understanding of relationship between such infections and infertility. [ABSTRACT FROM AUTHOR]

The majority of children, adolescents, and young adults diagnosed with cancer today will become long-term survivors. The threat to fertility that cancer treatments pose to young patients cannot be prevented in many cases, and thus research into methods for fertility preservation is developing, aiming at offering cancer patients the ability to have biologically related children in the future. This paper discusses the current status of fertility preservation methods when infertility risks are related to surgical oncologic treatments, radiation therapy, or chemotherapy. Several scientific groups and societies have developed consensus documents and guidelines for fertility preservation. Decisions about fertility and imminent potentially gonadotoxic therapies must be made rapidly. Timely and complete information on the impact of cancer treatment on fertility and fertility preservation options should be presented to all patients when a cancer treatment is planned. [ABSTRACT FROM AUTHOR]

Chlamydia trachomatis is among the most prevalent genital infections and is an important cause of tubal factor infertility. The majority of infected females are asymptomatic. Evidence on the reliability of signs of inflammation used to predict chlamydia in female patients is inconsistent. This study examined associations between criteria routinely used in many Scandinavian sexually transmitted infection (STI) clinics and a positive chlamydia test in a high-prevalence population. Clinical and microscopic signs of cervicitis and urethritis were recorded in 99 women attending due to chlamydia infection in a sexual partner. Mucopurulent cervical discharge, easily induced bleeding from the cervix, and more polymorphonuclear cells than epithelial cells in vaginal wet smear all correlated significantly with a positive Chlamydia trachomatis test (odds ratios: 3.4, 4.0 and 4.8, respectively). Increased numbers of polymorphonuclear leucocytes (>30 and >5, respectively) in stained cervical and urethral smears were not significantly correlated with chlamydia infection. Hence, routine collection of cervical and urethral smears in female STI patients is questionable. [ABSTRACT FROM AUTHOR]

Male infertility is a major cause of problems for many couples in conceiving a child. Recently, lifestyle pastimes such as alcohol, tobacco and marijuana have been shown to have further negative effects on male reproduction. The endocannabinoid system (ECS), mainly through the action of anandamide (AEA) and 2-arachidonoylglycerol (2-AG) at cannabinoid (CB1, CB2) and vanilloid (TRPV1) receptors, plays a crucial role in controlling functionality of sperm, with a clear impact on male reproductive potential. Here, sperm from fertile and infertile men were used to investigate content (through LC-ESI-MS), mRNA (through quantitative RT-PCR), protein (through Western Blotting and ELISA) expression, and functionality (through activity and binding assays) of the main metabolic enzymes of AEA and 2-AG (NAPE-PLD and FAAH, for AEA; DAGL and MAGL for 2-AG), as well as of their binding receptors CB1, CB2 and TRPV1. Our findings show a marked reduction of AEA and 2-AG content in infertile seminal plasma, paralleled by increased degradation: biosynthesis ratios of both substances in sperm from infertile versus fertile men. In addition, TRPV1 binding was detected in fertile sperm but was undetectable in infertile sperm, whereas that of CB1 and CB2 receptors was not statistically different in the two groups. In conclusion, this study identified unprecedented alterations of the ECS in infertile sperm, that might impact on capacitation and acrosome reaction, and hence fertilization outcomes. These alterations might also point to new biomarkers to determine male reproductive defects, and identify distinct ECS elements as novel targets for therapeutic exploitation of ECS-oriented drugs to treat male fertility problems. [ABSTRACT FROM AUTHOR]

Spermatozoa represent the epitome of terminally differentiated, highly specialized cells. They are transcriptionally and translationally silent and yet manage to undergo a complete functional transformation after they leave the testes, entirely fuelled by post-translational modifications occurring during epididymal maturation and capacitation. The latter have been recognized as biological processes for more than half a century. However, the biochemical mechanisms that drive these events have remained elusive, as have the pathological mechanisms that lead to defective sperm function and infertility. In the past decade the combined power of advanced proteomics, biochemistry, and functional genomics has permitted an unprecedented improvement in our understanding of sperm cell biology. We can also predict that a systems-biology approach, in concert with the new tools provided by the 'omics' revolution, will lead to dramatic gains in our understanding in the near future. As a result of such advances, insights will be generated that should ultimately lead to significant improvements in our capacity to diagnose and treat the infertile male. [ABSTRACT FROM AUTHOR]

Male fertility is an orchestrated interplay of loci on the Y chromosome with a number of genes from across the other chromosomes. In this context, micro-deletions in the Y chromosome have been correlated with spermatogenic failure often leading to infertility. However, causes of infertility in the patients with the normal spermiogram have remained unclear and therefore pose another level of challenge. In the present study, we analyzed 64 STSs, studied different Y-linked genes and loci and conducted single nucleotide variant (SNV) analyses in 31 infertile males with normal spermiogram along with 67 normal fertile males (NFMs) to gain an insight into the organization of their Y chromosome. Further, employing quantitative real-time PCR (qPCR), we studied copy number variation of DYZ1 arrays and three genes and mutational status of SRY by direct sequence analyses. STS analyses of the AZF α, b and c regions in these patients showed known and new mutations. Further, copies of DAZ and BPY2 in the patients were found to be affected (p<0:001) compared to those in NFMs. All the patients had normal copy number of the SRY however its sequence analysis (in silico) showed mutations in eight patients. In four of these eight patients, SRY mutations resulted into truncated proteins. Similarly, DYZ1 analysis showed micro-deletions and it's much reduced copy number (p<0:001) as compared to those in NFMs. Present study in males with unexplained infertility revealed deletions similar to those observed in oligospermic and azoospermic patients. Thus, there are some common but still unknown factors underlying infertility in these patients irrespective of their spermatogenic status. This work is envisaged to augment DNA diagnosis, proving beneficial in the context of in vitro fertilization (IVF) and genetic counselling. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the incidence of spermatic aneuploidies in men with severe teratozoospermia and to determine an eventual relation between aneuploidies and a specific morphology of spermatozoa. Fluorescence in situ hybridisation (FISH) using a probe cocktail containing the alpha satellite for the centromeric region of chromosome X, Y and 18 was performed on decondensed spermatozoa from fresh ejaculates of thirty patients with severe teratozoospermia (abnormal forms >80%) and 15 fertile men with normal semen profiles. The mean frequency of teratozoospermia in patients was 91 ± 6.99%. There was statistically a significantly increased frequency of 1818, XY, XX and YY disomies in sperm with severe teratozoospermia compared with normal sperm (1.24% versus 0.08%, 1.42% versus 0.31%, 1.13% versus 0.19% and 1.11% versus 0.24%, respectively, P < 0.001 in all comparisons). The rate of total diploidy was significantly increased in patients compared with controls (1.46% versus 0.16%, P < 0.001). There was a correlation between macrocephalic spermatozoa and diploidy ( r = 0.37, P < 0.05). Our data add further evidence that patients with severe teratozoospermia have an increased sperm aneuploidy rate and that this is particularly high in macrocephalic spermatozoa; FISH analysis on sperm could help to improve risk assessment and reproductive counselling in these individuals who are frequently candidates for intracytoplasmic sperm injection (ICSI) as a treatment of their infertility, as the use of ICSI has created consequential debate concerning the genetic risk for the offspring. [ABSTRACT FROM AUTHOR]

Adult polycystic kidney disease (APKD) is one of the most common inherited disorders affecting one in 800-1000 live births. Extra-renal manifestation of APKD is not uncommon. Cysts involving the male and female reproductive system have been reported. However, fertility is affected only in male subjects. Among cysts involving the reproductive system, seminal vesicle cysts have been reported to be the most common. The effect of seminal vesicle cysts on male fertility has been controversial. Current literature reports that majority of men remain fertile. However, uraemia and its implications on fertility and abnormal semen parameters in men with seminal vesicle cysts must be taken into consideration. We herein present two patients with APKD with contrasting semen parameters and also review the current literature. [ABSTRACT FROM AUTHOR]

The aim of this retrospective study was to determine the prevalence of testicular microlithiasis (TM) in central-eastern Sicilian men and to evaluate the association between TM and testicular tumour or infertility. A total of 1056 Sicilian patients underwent scrotal US between 2005 and 2010. TM was found in 106 men with an overall prevalence of 10%; roughly about four times the median prevalence reported in the previous studies (0.6-18.1%). Forty men (3.8%) had a classic TM, whereas 66 (6.2%) had a limited TM. The prevalence of testicular tumour in this cohort was 2.4% (25/1056). At the moment when the testicular tumour was diagnosed, 15 patients (60%) had TM. There was a significant difference ( P < 0.01) between the rate of malignancy in men with TM (15/106; 14.2%) and that in men without TM (10/950; 1.1%) with an odds ratio = 16. The prevalence of TM among infertile patients was 18.8%. These data may relate to an increased awareness towards scrotal US examination and/or to the use of more sensitive equipments. The elevated rate of testicular malignancy in men with TM suggests that this US feature may be regarded as a risk factor for testicular tumour. [ABSTRACT FROM AUTHOR]

The study is to analyse the clinical data of the two groups of patients with different fertilisation outcomes after short-time insemination and probe into short-time insemination indications. A retrospective study including 558 cycles of short-time insemination in our centre during January 2009 to June 2010 which were divided into two groups by the method of fertilisation, 472 cycles by IVF and 86 cycles by Re-ICSI group according to fertilisation conditions to and compare the differences between the two groups in the indexes of average female age, average male age, duration of infertility, forward-moving sperm counts, abnormal sperm rate, proportion of primary infertility, etc. The differences between the two groups have statistical significance in duration of infertility, forward-moving sperm counts, abnormal sperm rate and proportion of primary infertility (5.02 ± 3.12 versus 5.86 ± 3.35; 83.06 ± 78.55 versus 54.02 ± 61.78; 83.56 ± 5.24% versus 86.31 ± 5.26%; 56.87% versus 74.42%; P < 0.05). The discrepancy between the two groups has no statistical significance in average female age and average male age ( P > 0.05). Duration of infertility, forward-moving sperm counts, abnormal sperm rate and previous pregnancy history have great significance to predict fertilisation failure, so decisions should be made on the basis of the above indexes when evaluating whether a patient should conduct short-time insemination. [ABSTRACT FROM AUTHOR]

Testicular spermatozoa during journey through epididymis acquire forward motility, which is essential for fertility. To understand the biochemistry of sperm motility initiation, various initiation media have been developed that permitted high level of motility induction (55-60%) in the immature caput-spermatozoa in presence of activating principles: theophylline, bicarbonate and epididymal plasma (EP) when analysed microscopically. Here, we show for the first time using caprine model that stability and quality of in vitro-induced motility in the caput spermatozoa is insignificant in contrast to naturally induced motility in mature cauda spermatozoa. In vitro-induced motility of the immature spermatozoa was lost completely upon the removal of these activators by centrifugation. Selective withdrawal of either EP or HCO3 by dilution retains 50-60% of the in vitro-induced motility. Spectrophotometric analysis revealed that in vitro-induced vertical motility in immature spermatozoa is too little when compared to mature spermatozoa. In in vitro-initiated caput spermatozoa, cyclic adenosine monophosphate level becomes doubled but lesser than cauda spermatozoa. This revelation concludes that scientific knowledge generated over the years on the basis of in vitro initiation method is insignificant and needs improvisation to delineate biochemical regulation of sperm motility which in turn has remarkable potential in wide biological fields, especially in infertility treatment. [ABSTRACT FROM AUTHOR]

The objective of the study was to assess whether seminal plasma total antioxidant status (TAS) can be used as a biochemical predictor of male fertility and its variation in different categories of infertile male subjects in our population. The study population consisted of 28 fertile and 127 infertile [teratozoospermic (30), asthenoteratozoospermic (30), azoospermic (21), oligoastheno-teratozoospermic (20), polyzoospermic (15) and oligozoospermic (11)] male subjects. Seminal plasma was separated by centrifugation and stored at minus 80 degree Celsius. Semen was analysed using computer-assisted semen analysis according to WHO criteria. Seminal plasma TAS was estimated by colorimetric method using Randox total antioxidant status kit. TAS of fertile male subjects was significantly ( P < 0.001) higher than that of infertile patients. In whole studied population, seminal plasma TAS showed a significant positive correlation with sperm concentration ( P < 0.001), sperm motility ( P < 0.0001), and spermatozoa with normal morphology ( P < 0.0001). In conclusion, this study suggests that TAS of seminal plasma is one of the important factors contributing to male infertility, and it can be used as a biochemical predictor for male fertility. [ABSTRACT FROM AUTHOR]

Infertility affects around 1 in 10 men and in most cases the cause is unknown. The Y chromosome plays an important role in spermatogenesis and specific deletions of this chromosome, the AZF deletions, are associated with spermatogenic failure. Recently partial AZF deletions have been described but their association with spermatogenic failure is unclear. Here we screened a total of 339 men with idiopathic spermatogenic failure, and 256 normozoospermic ancestry-matched men for chromosome microdeletions including AZFa, AZFb, AZFc, and the AZFc partial deletions (gr/gr, b1/b3 and b2/b3). AZFa and AZFc deletions were identified in men with severe spermatogenic failure at similar frequencies to those reported elsewhere. Gr/gr deletions were identified in case and control populations at 5.83% and 6.25% respectively suggesting that these deletions are not associated with spermatogenic failure. However, b2/b3 deletions were detected only in men with spermatogenic failure and not in the normospermic individuals. Combined with our previous data this shows an association of the b2/b3 deletion (p = 0.0318) with spermatogenic failure in some populations. We recommend screening for this deletion in men with unexplained spermatogenic failure. [ABSTRACT FROM AUTHOR]

The article focuses on a case-control study related to the association of MUC2 polymorphisms with endometriosis development and infertility in Taiwanese Han women. It states that during the study allele distribution analyses revealed significant associations between endometriosis and genetic variations at three of the six single-nucleaotide polymorphism (SNPs).

Background: The use of assisted reproductive techniques (ART) for treatment of infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk of congenital malformations. Therefore, we assessed the risk of anorectal malformations (ARM) after in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Methods: Data of the German Network for Congenital Uro-REctal malformations (CURE-Net) were compared to nationwide data of the German IVF register and the Federal Statistical Office (DESTATIS). Odds ratios (95% confidence intervals) were determined to quantify associations using multivariable logistic regression accounting for potential confounding or interaction by plurality of births. Results: In total, 295 ARM patients born between 1997 and 2011 in Germany, who were recruited through participating pediatric surgeries from all over Germany and the German self-help organisation SoMA, were included. Controls were all German live-births (n = 10,069,986) born between 1997 and 2010. Overall, 30 cases (10%) and129,982 controls (1%) were born after IVF or ICSI, which translates to an odds ratio (95% confidence interval) of 8.7 (5.9-12.6) between ART and ARM in bivariate analyses. Separate analyses showed a significantly increased risk for ARM after IVF (OR, 10.9; 95% CI, 6.2-19.0; P < 0.0001) as well as after ICSI (OR, 7.5; 95% CI, 4.6-12.2; P < 0.0001). Furthermore, separate analyses of patients with isolated ARM, ARM with associated anomalies and those with a VATER/VACTERL association showed strong associations with ART (ORs 4.9, 11.9 and 7.9, respectively). After stratification for plurality of birth, the corresponding odds ratios (95% confidence intervals) were 7.7 (4.6-12.7) for singletons and 4.9 (2.4-10.1) for multiple births. Conclusions: There is a strongly increased risk for ARM among children born after ART. Elevations of risk were seen after both IVF and ICSI. Further, separate analyses of patients with isolated ARM, with associated anomalies and those with a VATER/VACTERL association showed increased risks in each group. An increased risk of ARM was also seen among both singletons and multiple births. [ABSTRACT FROM AUTHOR]

Background: Infertility represents a major challenge to the emotional balance and sexual life of couples, with long-lasting and gender-specific effects. The objective of this study is to explore personality features of infertile patients and detect possible sexual disorders in couples undergoing infertility treatment. Materials and methods: In this prospective study 60 infertile couples and 52 fertile control couples were asked to complete standardized and validated questionnaires: the Adjective Check List (ACL) to enquire about personality features and the Female Sexual Function Index (FSFI) or the International Index of Erectile Function (IIEF) to assess sexual functioning of female and male partners. The study population was divided into 3 groups: Group A (N = 30, recently diagnosed infertile couples) Group B (N = 30, infertile couples already undergoing Intrauterine Insemination) and Group C (N = 52, fertile control group). Results: Infertile patients did not display any distinguishing personality features. Regarding sexual function, men of all the three groups scored higher in both questionnaires (sexual satisfaction, desire and orgasm) than their female partners. Comparing results between groups, Group A male partners obtained lower scores in all the subscales. Women belonging to Group A and Group B showed an impairment of sexual arousal, satisfaction, lubrification and orgasm when compared to fertile controls. Conclusions: Even if at the very first stages of infertility treatment no personality disturbances can be detected, the couples' sexual life is already impaired with different sexual disorders according to gender. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to maximize the chance of pregnancy and provide an optimal protocol for infertile female patients of advanced reproductive age as an alternative to in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) treatment. Methods: We retrospectively analyzed medical records of 432 infertile women aged ≥38 at the beginning of the treatment. Stepwise non-IVF/ICSI treatments using timed intercourse or intrauterine insemination, with or without controlled ovarian stimulation, were adopted for all patients. In this population, we extracted 8 representative infertility factors and examined these effects on fertility rate by calculating clinical pregnancy rate. Results: The prognosis for infertile women possessing at least one of the three factors, 'advanced female age (≥42 years)', 'endometriosis/adenomyosis', and 'tubal infertility' was apparently poor because only 5 out of 155 women were able to conceive (1.02% per cycle). In contrast, 95 patients without the four factors, 'advanced female age', 'endometriosis/adenomyosis', 'tubal infertility', and 'male infertility', were more likely to conceive (9.14% per cycle). Conclusions: Fertility centers can offer appropriate protocols for non-IVF/ICSI treatment and establish guidelines for aged infertile patients by examining infertility factors and considering their combinations. [ABSTRACT FROM AUTHOR]

The possibility for healthy women to cryopreserve their oocytes in order to counter future infertility has gained momentum in recent years. However, women tend to cryopreserve oocytes at an age that is suboptimal from a clinical point of view -- in their late thirties -- when both oocyte quantity and quality have already considerably diminished and success rates for eventually establishing a pregnancy are thus limited. This also gives rise to ethical concerns, as the procedure is seen as giving false hope to (reproductively speaking) older women. This study evaluates which measures can be taken to turn social freezing into a procedure that is both clinically and ethically better than the current practice. The main objective of these measures is to convince those women who are most likely to (want to) reproduce at an above-average age to cryopreserve their oocytes at a time when this intervention is still likely to lead to a live birth and to discourage fertility clinics from specifically targeting women who have already surpassed the age at which good results can be expected. [ABSTRACT FROM AUTHOR]

The authors review the current approach to management of the adolescent varicocele which has evolved over the past two decades. Principles of observational, surgical and adjunctive management are discussed relative to significant clinical findings. A selective approach to surgical intervention is advocated with the goal of preserving fertility potential. [Copyright &y& Elsevier]

Summary Men with Down syndrome are considered as infertile although the causes of infertility are not known in detail yet. Although this constitutes a general rule there are three confirmed cases of parenting by fathers with Down syndrome. Many investigators have addressed the causes of infertility and their studies indicate that the causes may be hormonal deficits, morphological alterations of the gonads, abnormal spermatogenesis, psychological and social factors related to the mental retardation. It is obvious that the extra chromosome 21 has a detrimental direct and indirect effect on the reproductive capacity of the affected male patient. But the definite cause of the insufficient and inadequate spermatogenesis remains to be discovered. [ABSTRACT FROM AUTHOR]

Objective. Endometriosis-associated infertility results in reduced ovarian response, fewer oocytes available for fertilization, compromised oocyte quality and higher miscarriage rates. A consistent proportion of women with endometriosis require in vitro fertilization. We sought to clarify the impact of deep infiltrating pelvic disease on antral follicle count and ovarian response to follicle-stimulating hormone (FSH) stimulation in patients with severe endometriosis. Design. Retrospective cohort study. Setting. University hospital. Population. Patients with severe endometriosis (stages III-IV; n=51) were divided into two groups regarding localization of endometriosis during surgical staging: ovarian ( n=27) and both ovarian and deep infiltrating disease ( n=24). Methods. A total of 73 long-protocol ovulation induction cycles with recombinant FSH for an intracytoplasmic sperm injection program were given. On day 3 of the cycle, measurements of FSH and luteinizing hormone and an ultrasound evaluation of antral follicle count were performed. Main Outcome Measures. Number of oocytes collected at ovum pick up, number of mature oocytes, number of embryos transferred and clinical pregnancy rate. Results. Ovarian reserve in terms of antral follicle count was damaged in both groups but, if adjusted for age, it was significantly lower in the ovarian and pelvic infiltrating group compared with patients having only ovarian endometriosis. Pelvic deep infiltrating disease significantly impacted on the number of oocytes collected at pick up when adjusted for age. Conclusions. Deep infiltrating pelvic disease can negatively affect ovarian reserve in terms of antral follicle count and number of oocytes retrieved. Mechanisms underlying this phenomenon need to be elucidated. [ABSTRACT FROM AUTHOR]

Increased meiotic spindle abnormalities and aneuploidy in oocytes of women of advanced maternal ages lead to elevated rates of infertility, miscarriage, and trisomic conceptions. Despite the significance of the problem, strategies to sustain oocyte quality with age have remained elusive. Here we report that adult female mice maintained under 40% caloric restriction (CR) did not exhibit aging-related increases in oocyte aneuploidy, chromosomal misalignment on the metaphase plate, meiotic spindle abnormalities, or mitochondrial dysfunction (aggregation, impaired ATP production), all of which occurred in oocytes of age-matched ad libitum-fed controls. The effects of CR on oocyte quality in aging females were reproduced by deletion of the metabolic regulator, peroxisome proliferator-activated receptor γ coactivator-1α (PGC-1α). Thus, CR during adulthood or loss of PGC-1α function maintains female germline chromosomal stability and its proper segregation during meiosis, such that ovulated oocytes of aged female mice previously maintained on CR or lacking PGC-1α are comparable to those of young females during prime reproductive life. [ABSTRACT FROM AUTHOR]

Abstract: It is self-evident that infection and inflammation in the reproductive tract can inhibit male fertility, but the observation that fertility may also be compromised by systemic inflammation and disease is more difficult to explain. Recent studies implicating microbial pattern-recognition receptors, such as the Toll-like receptors (TLRs), as well as inflammatory cytokines and their signalling pathways, in testicular function have cast new light on this mysterious link between infection/inflammation and testicular dysfunction. It is increasingly evident that signalling pathways normally involved in controlling inflammation play fundamental roles in regulating Sertoli cell activity and responses to reproductive hormones, in addition to promoting immune responses within the testis. Many of the negative effects of inflammation on spermatogenesis may be attributed to elevated production of inflammation-related gene products within the circulation and the testis, which subsequently exert disruptive effects on spermatogenic cell development and survival, as well as the ability of the Sertoli cells to provide support for spermatogenesis. These interactions have important implications for testicular dysfunction and disease, and may eventually provide new opportunities for therapeutic interventions. [Copyright &y& Elsevier]

Objective: To evaluate the application value of rescue ICSI in fertilization failure after conventional IVF and choose the best rescue window before oocyte aging according to the results of rescue ICSI performed in different time. Methods: The data of 93 IVF cycles were analyzed retrospectively. Rescue ICSI was performed in these cycles after conventional IVF failure. Because of the different rescue time, these cycles were divided into two groups: early rescue group (group A, 77 cycles, rescue ICSI performed 4–8 h after conventional IVF) and late rescue group (group B, 16 cycles, rescue ICSI performed 20–22 h after conventional IVF). Results: There were no statistically significant differences in age of female, duration of infertility, number of oocytes retrieved every cycle. The normal fertilization rate, pregnancy rate and implantation rate were decreased in group B compared with those in group A (P<0.05). In group A, the normal fertilization rate of rescue ICSI performed 4–6 h after conventional IVF (group A1) was increased compared with that of rescue ICSI performed 6–8 h (including 6 h) after conventional IVF (group A2)(66.5% vs 55.9%)(P<0.05); while the abnormal fertilization rate in group A1 was decreased compared with group A2 (9.0% vs 14.4%)(P<0.05). Clinical pregnancy rate was slight higher in group A1 than in group A2, though this failed to be significantly different. Conclusion: Rescue ICSI is effective if fertilization was failure after conventional IVF, the most important thing is to choose the reasonable rescue window before oocyte aging when ICSI is performed. [ABSTRACT FROM AUTHOR]

Purpose. This study is designed to compare the results of in vitro fertilisation (IVF) in polycystic ovary syndrome (PCOS) and tubal factor disorders. Materials and methods. This was a cohort study performed in Royan Institute from 2007 to 2009. For this evaluation, 183 patients with PCOS and 183 patients with tubal factor (control group), whose ages ranged from 22 to 35 years underwent the long protocol of pituitary suppression and were included in the study. Results. In a defined time cycle, the number of ampoules used was higher for the control group (24.6 ± 0.9 versus 33.4 ± 0.9; p < 0.0001). The PCOS group produced more oocytes (9.6 ± 0.5 versus 6.4 ± 0.3; p ≤0.0001) and embryos (3.7 ± 0.2 versus 2.7 ± 0.1; p = 0.001). There were no significant differences in cancellation rate, the occurrence of ovarian hyperstimulation syndrome (OHSS) and cycles that resulted in lacked efficient follicle in the PCOS group and control group. Comparisons for biochemical pregnancy, implantation, clinical pregnancy and ongoing pregnancy rates showed no statistical difference. No significant differences were detected in miscarriage rates and complications. Conclusion. The outcome of IVF in patients with PCOS and in patients with tubal infertility is similar. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective. Increasing use of infertility treatment and a decline in demographic fertility in some countries have raised concern whether human fecundity is declining or has declined over time. A dramatic decline in semen quality over the past half-century has been proposed and widely discussed, but none of the existing studies provide data good enough for coming to any firm conclusion. Results. Results from 19 articles published during the last 5 years on semen quality and fecundity, covering data from the Nordic countries since the year 2000, do not indicate an ongoing decline in fertility. Conclusion. We will probably never know, whether semen quality and fecundity has declined over time, but we may be able to monitor biological fecundity and semen quality over time from now on. There are both research initiatives and interest from official channels that could provide more funding for infertility research. [ABSTRACT FROM AUTHOR]

Objective: To investigate acupuncture practitioners' experience and perceptions of supporting patients presenting with fertility issues. Design: Questionnaire survey. Setting: British Acupuncture Council. Patient(s): British Acupuncture Council acupuncture practitioners. Intervention(s): Questionnaire designed for the study, by post and online. Main Outcome Measure(s): Questions on education and training, size and nature of practice, liaison with conventional care, and perceptions about use of acupuncture for fertility issues. Result(s): Questionnaires were sent to 2,580 practitioners. Of 861 responses, 15% of practitioners supporting fertility issues said this constituted a large proportion of their case load. Eighty percent of practitioners reported most fertility work was related to assisted conception. More than 60% had specialist training. Practitioners' perceived benefits included stress reduction, relaxation, regulation of menstrual cycle, and emotional support. Emotional burden on both patients and practitioners was recognized and the limits of therapy. Point-specific acupuncture protocols were common (70%). Thirteen percent reported problems working with physicians. Use of acupuncture for male fertility issues was uncommon. Conclusion(s): A minority of acupuncturists have become specialists in supporting fertility issues. The use of an acupuncture protocol is common but does not conform to traditional acupuncture as it is taught and practiced for other conditions. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the function of human ovarian transplants. Design: Follow a series of fresh ovarian transplants for up to 5 years, and compare fresh and frozen ovarian tissue transplantation. Setting: Tertiary referral community hospital. Patient(s): Nine women with premature ovarian failure who received an ovary donated from a monozygotic twin sibling, and 16 young cancer patients undergoing ovarian cryopreservation. Two of the transplant recipients were cancer survivors rendered sterile by their therapy. Intervention(s): Fresh ovary transplantation between monozygotic twin sisters, as well as transplantation of previously frozen ovarian tissue, and study of cryopreserved tissue in cancer patients. Main Outcome Measure(s): Return of normal menstrual cycling, hormone levels, pregnancy, healthy babies, duration of transplant function, and ovarian tissue evaluation. Result(s): Normal serum FSH and regular menstrual cycles returned by 5 months after surgery in all cases, both fresh and frozen. Fourteen spontaneous pregnancies were established leading to eight healthy live births and two healthy ongoing conceptions. All three frozen tissue transplants conceived spontaneously, one delivered, and two were ongoing. Oocyte survival with slow freezing was 42% and after vitrification 89%. Conclusion(s): Ovarian transplantation in humans is a robust procedure, even after cryopreservation, and vitrification might prove to be more effective than slow freezing. [ABSTRACT FROM AUTHOR]

Objective: To review a center''s experience with cryopreserved embryos generated from donor eggs and to analyze their long-term disposition. Design: Retrospective analysis of donor egg cycles with cryopreserved embryos. Setting: University-based IVF program. Patient(s): Eight hundred twenty-nine women undergoing ooctyte donation. Intervention(s): N/A. Main Outcome Measure(s): Factors affecting the decision regarding disposition of donor frozen embryo transfer (dFET) and the association between fresh and dFET cycles. Result(s): From January 2000 to December 2004, donor egg recipients underwent 829 fresh embryo transfer cycles that resulted in a 54% live birth rate. Of the 444 recipients who delivered, 177 (40%) also cryopreserved embryos at transfer; however, only 37 (21%) returned for a dFET by August 2009 and only 18 women had children from fresh and frozen transfers. In contrast, 128 of the 385 recipients who failed the fresh transfer (33%) cryopreserved embryos and 111 (87%) returned for a dFET. Of these, 44 had children from the dFET. Frozen cycle success rates between these recipient groups did not depend on fresh cycle outcome or prior parity. Conclusion(s): Donor oocyte recipients often initiate treatment with a desire to cryopreserve embryos for future use and family expansion. However, our data demonstrates that most recipients with a child from the fresh transfer do not return to use their cryopreserved embryos. Although fresh transfer success correlated with embryo disposition, it did not correlate with the outcome of thawed embryo transfer. [Copyright &y& Elsevier]

Objective: To examine the relationship between MMPI-2 scores and oocyte donation outcome. Design: Descriptive chart review. Setting: Two oocyte donation programs. Subject(s): Five hundred anonymous oocyte donor applicants. Intervention(s): None. Main Outcome Measure(s): Demographics, MMPI-2 scores and donation outcome. Result(s): The mean age was 26.6 years, 54% were Caucasian, 37% were high school graduates with some college, 55% were single, and 49% were nulliparous. Fifty-nine percent of donors completed at least one donation cycle, 10% were ruled out because of medical concerns, 12% dropped out, 11% were ruled-out because of psychologic concerns, and 8% had not been selected by a recipient. On the MMPI-2, the mean profile was in the normal range. Significant differences were found between groups on subscales F, F(p), L, S, S1, 2, 4, 8, and 9. The largest differences in scores between donors who completed a cycle and those who were psychologically excluded were on L (8 points) and 9 (6 points). Use of the non-K corrected scores replicated group differences. Conclusion(s): MMPI-2 scores differed between donors who completed a donation cycle and those who were psychologically excluded. Attention should be paid to validity scale L when considering donor selection. [ABSTRACT FROM AUTHOR]

Objective: To survey oncologists regarding their knowledge and practice patterns concerning fertility preservation for female cancer patients. Design: An online survey was sent to oncologists at cancer centers ranked by U.S. News & World Report. Setting: Oncologists who treat women of reproductive age at academic medical centers. Patient(s): None. Intervention(s): None. Main Outcome Measure(s): Counseling and referral practices of oncologists regarding fertility risks among young women with cancer. Results: Most (95%) of the 249 responding oncologists routinely discuss a treatment''s impact on fertility; 1,701 surveys were sent. Although 82% have referred patients to reproductive endocrinologists, more than half rarely refer. When planning treatment, 30% rarely consider a woman''s desire for fertility. Gynecologic oncologists were more likely to routinely consider fertility compared with other oncologists (93% vs. 60%). Gynecologic oncologists also were more likely to provide a less effective regimen to better preserve fertility (61% vs. 37%). Most oncologists (86%) would be willing to sacrifice less than a 5% reduction in disease-free survival if a regimen offered better fertility outcomes; 36% felt patients would be willing to sacrifice >5%. Conclusion(s): Although most oncologists at academic medical centers discuss the risk of infertility with female patients, referrals to reproductive endocrinologists are rare. Gynecologic oncologists may be more likely than others to consider modifying treatment to preserve fertility. According to oncologists, patients may be willing to sacrifice more in survival than they would. [Copyright &y& Elsevier]

This study aimed at evaluating the role of laparoscopy in the management of unexplained infertility in a prospective randomised controlled trial. The study comprised of 255 patients as a study group and 257 patients as a control group. All women had unexplained infertility. Patients in the study group had laparoscopy followed by ovarian stimulation and timed intercourse for six cycles, while patients in the control group were treated directly with ovarian stimulation and timed intercourse for six cycles. Severe adhesions were found in one in each of the two groups, respectively. They were referred directly to the IVF/ICSI programme. Moderate pelvic endometriosis was demonstrated in three cases in the two groups. Again, severe endometriosis was found in two cases in the study groups and they were referred to the IVF/ICSI programme. After 6 months of follow-up, clinical pregnancy occurred in 114/255 (44.7%) in the study group and 107/257 (41.7%) in the control group and the difference was not statistically significant (p > 0.05). The miscarriage rate was similar in the two groups. We concluded that laparoscopy could be postponed when proceeding in the management of unexplained infertility, until ovarian stimulation and timed intercourse had been found to be unsuccessful in achieving pregnancy. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to compare irrational beliefs, defense mechanisms and marital satisfaction in fertile and infertile women. Materials and methods: This study was a causal comparative survey performed on 30 fertile and 30 infertile women chosen by available and simple random sampling out of the whole clients referred to Vali-e-Asr Reproductive Health Research Center from February 2009 to September 2009. The instruments of measurement included 3 questionnaires: Jones irrational beliefs, defense mechanisms and ENRICH marital satisfaction which were performed on samples. Data were analyzed by SPSS-16 software. Results: The scale of subtests of Jones irrational beliefs, defense mechanisms and marital satisfaction were significantly different in fertile and infertile women. Conclusion: The results of this study showed that infertile women use irrational beliefs and defense mechanisms more than fertile women and their marital satisfaction is less than fertile women. [ABSTRACT FROM AUTHOR]

The article analyzes the correlation between endometriosis and infertility. It is reported that, endometriosis and infertility are associated clinically which is evident from the fact that medical and surgical treatments for endometriosis have different effects on a woman's chances of conception, either spontaneously or through assisted reproductive technologies (ART). It is reported that, retrograde menstruation is the pathogenesis of endometriosis, and ultimately endometriotic lesions causes profound alterations of peritoneal fluid, which surrounds the pelvic organs thus causing pelvic inflammation.

Male factors are known to contribute significantly to the infertility problem. The urogenital bacteria profile and semen quality were investigated among 160 men attending infertility clinics in South-eastern Nigeria. Both semen and urine samples were obtained from each subject and analysed according to standard techniques. A total of 16 (10%) had bacterial infection in their semen samples and individuals of older age groups were significantly affected (χ2 = 23.18, P < 0.05). Urinary tract infection (UTI) was observed in 30.6% of subjects, with the highest rate occurring among men aged 36–40 years, but the difference was not significant (χ2 = 7.62, P > 0.05). A total of 33.8% of the men had semen volume less than 2 ml per ejaculate, 33.8% also recorded total sperm count of <40 × 106 ml−1, while 36.3% recorded sperm motility <50%. Fifty-three individuals (33.1%) had suboptimal sperm morphology (<60%), with the men aged 46–50 years old significantly affected (χ2 = 13.03, P < 0.05). All the individuals with bacterial infection in semen also had UTI and suboptimal semen parameters. The commonest bacterial isolates were Proteus species, Staphylococcus aureus and Escherichia coli, which were resistant to most of the antibiotics assessed. [ABSTRACT FROM AUTHOR]

To investigate the frequencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China. Moreover, to compare the prevalence of these abnormalities with other countries and regions in the world. 305 infertile men were enrolled. A complete semen analysis and reproductive hormones were measured according to standard methods. Multiplex polymerase chain reaction (PCR) amplification using nine specific sequence-tagged sites (STS) were used to detect AZF microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding. Of the 305 infertile men, 28 (9.2%) had AZF microdeletions and 26 (8.5%) had chromosomal abnormalities. The most frequent microdeletions were in the AZFc+d, followed by AZFc, AZFb+c+d and AZFa. A total of 19 patients (82.6%) had Klinefelter′s syndrome (47, XXY) in the azoospermic group. The freqencies of AZF microdeletions and chromosomal abnormalities in infertile men from Northeastern China were comparable with infertile men from other countries and regions. However, there was a slightly higher prevalence rate of AZF microdeletions in oligozoospermic patients than reported in previous studies. [ABSTRACT FROM AUTHOR]

Spinal cord injury (SCI) in men results in defects in erectile function, ejaculatory process and male reproductive potential. There are alterations in the capacity of men with SCI to achieve reflexogenic, psychogenic and nocturnal erections. The sexual function in different stages after SCI and the types of erections depend mainly on the completeness of the injury and the level of neurological damage. Furthermore, most of the SCI men demonstrate defects concerning the entrance of semen into the posterior urethra and the expulsion of the semen through the penile urethra and the urethral orifice. In addition, SCI men develop defects in the secretory function of the Leydig cells, Sertoli cells and the male accessory genital glands. The overall result is a decreased quality of the semen is recovered either with penile vibratory stimulation (PVS) or with electroejaculation. Nowadays the therapeutic andrological approach of SCI men focuses on achievement of erectile function, recovery of spermatozoa and assisted reproductive technology. The first line of therapy recommended for infertility in SCI men is collection of semen via PVS with concomitant evaluation of total motile sperm yields for assisted conception which may include intravaginal insemination, intrauterine insemination, or in vitro fertilisation/intracytoplasmic sperm injection. Patients failing PVS may be referred for electroejaculation or surgical sperm retrieval. [ABSTRACT FROM AUTHOR]

Researchers studying infertility from the perspective of anthropology and other the social sciences seldom examine the assumptions embedded in the biomedical definition of infertility. Implicit in the biomedical definition is the assumption that people can be divided straightforwardly into those who are trying to conceive and those who are not trying to conceive. If being infertile implies “intent to conceive,” we must recognize that there are various degrees of intent and that the line between the fertile and the infertile is not as sharp as is usually imagined. Drawing on structured interview data collected from a random sample of Midwestern U.S. women and from qualitative interviews, we demonstrate that that there is a wide range of intent among those classified as infertile according to the biomedical definition. We explore the implications of this for research. [ABSTRACT FROM AUTHOR]

BACKGROUND: Uterus transplantation (UTx) is developed in animal models as a future method to treat uterine factor infertility. [ABSTRACT FROM PUBLISHER]

BACKGROUND: Semen quality is taken as a surrogate measure of male fecundity in clinical andrology, male fertility, reproductive toxicology, epidemiology and pregnancy risk assessments. Reference intervals for values of semen parameters from a fertile population could provide data from which prognosis of fertility or diagnosis of infertility can be extrapolated. [ABSTRACT FROM PUBLISHER]

Background: It has previously been reported that children born after infertility treatment had a slight delay in early motor milestones. In this study, we examined whether children of infertile couples with or without infertility treatment had a higher risk of developmental coordination disorder (DCD).Methods: We used data on parental infertility and DCD among 23 167 singletons from the Danish National Birth Cohort (1996-2002). Data on time to pregnancy (TTP) and infertility treatment were collected early in pregnancy. Data on DCD in children were collected using the Developmental Coordination Disorder Questionnaire, filled in by the mothers during follow-up when the children were 7 years old. We used the recommended cut-off for the age group to classify children.Results: Compared with children born of fertile couples, children conceived after a waiting TTP of longer than 12 months had a slightly higher risk of DCD [odds ratio (OR) 1.35, 95% confidence interval (CI) 1.03-1.77], but the estimated OR was not significant in children born after infertility treatment (OR 1.19, 95% CI 0.86-1.66). None of the individual treatment procedures was significantly associated with a higher risk of DCD. Children of parents who had not planned their pregnancy showed no elevated risk.Conclusions: Our findings are overall reassuring, although it is possible that low fecundity may be associated with a modestly increased risk of DCD. [ABSTRACT FROM AUTHOR]

Tubal blockage is one of the most important factors for female infertility. This condition is not described in Ayurvedic classics, as the fallopian tube itself is not mentioned directly there. The present study is an effort to understand the disease according to Ayurvedic principles. Correlating fallopian tubes with the Artavavaha (Artava-bija-vaha) Srotas, its block is compared with the Sanga Srotodushti of this Srotas. Charak's opinion that the diseases are innumerable and newly discovered ones should be understood in terms of Prakriti, Adhishthana, Linga, and Aayatana, is followed, to describe this disease. An effort has been made to evaluate the role of all the three Doshas in producing blockage, with classification of the disease done as per the Dasha Roganika. [ABSTRACT FROM AUTHOR]

Clinical symptoms of endometriosis, such as pain and infertility, can be described as persistent stressors. Such continuous exposure to stress may severely affect the equilibrium and bidirectional communication of the endocrine and immune system, hereby further aggravating the progression of endometriosis. In the present study, we aimed to tease apart mediators that are involved in the stress response as well as in the progression of endometriosis. Women undergoing diagnostic laparoscopy due to infertility were recruited ( n = 69). Within this cohort, early stage of endometriosis were diagnosed in n = 30 and advanced stage of endometriosis in n = 8. Levels of progesterone in serum were determined. Frequency of progesterone receptor (PR) expression on CD56+ and CD8+ peritoneal lymphocytes was analysed by flow cytometry. The production of tumour necrosis factor (TNF) and interleukin (IL)-10 by peritoneal leukocytes upon stimulation with the potent stress mediator corticotropin-releasing hormone (CRH) and the progesterone derivative dydrogesterone, or both, were evaluated. Furthermore, the production of progesterone-induced blocking factor (PIBF) by peritoneal leukocytes and the expression of PR in endometriotic tissue were investigated. Levels of progesterone in serum were decreased in women with endometriosis and inversely correlated to pain scores. Furthermore, an increased frequency of CD56+PR+ and CD8+PR+ peritoneal lymphocytes was present in advanced endometriosis. The TNF/IL-10 ratio, reflecting cytokine secretion by peritoneal cells, was higher in cells derived from endometriosis patients and could be further heightened by CRH stimulation, whereas stimulation with dydrogesterone abrogated the CRH-mediated inflammation. Finally, the expression of PIBF by peritoneal leukocytes was increased in endometriosis. Low levels of progesterone in the follicular phase could be responsible for the progression of endometriosis and related pain. Peripheral CRH, increasing upon high psychological stress, might contribute to the peritoneal inflammation present in endometriosis. The therapeutic application of progesterone derivatives, CRH blocking agents as well as improvement of stress coping may disrupt the vicious circle between the chronic peritoneal inflammation and high perception of psychological stress in endometriosis. [ABSTRACT FROM AUTHOR]

Background: Abnormal DNA methylation of the male germ line is proposed as a possible mechanism causing compromised spermatogenesis in some men diagnosed with idiopathic infertility. Previous studies suggested that aberrant DNA methylation of several genes is associated with disruptions in spermatogenesis. However, little information is available on DNA methylation patterns of testis-specific genes in idiopathic male infertility. Methods: To investigate the association between DAZ gene methylation patterns and spermatogenic failure, we performed an analysis of methylation patterns in 174 idiopathic infertile patients and 58 fertile controls using bisulfite-modified sequencing. Results: We found that the methylation patterns of CpG island (CGI) in the DAZ gene promoter region were different between somatic cells and spermatic cells in the control group. DAZ gene methylation patterns among groups with different spermatogenic status were the same in somatic cells, completely methylated, and in spermatic cells. The results were concordant, except for the group with azoospermia (AZ) which were completely unmethylated. Conclusions: Our data indicate that the methylation patters of the DAZ gene are not associated with spermatogenic failure. This suggests that epigenetic modification of DAZ is unlikely to be involved in the etiology of spermatogenic failure. Clin Chem Lab Med 2010;48:355–60. [ABSTRACT FROM AUTHOR]

Elevated levels of polymorphonuclear leucocyte (PMN)-derived elastase, which is suggested as marker for inflammations in the male genital tract, correlate well with spermatozoa deterioration. PMN elastase caused a time- and concentration-dependent (up to a elastase concentration of 0.5 μg/mL) externalization of phosphatidylserine and intercalation of propidium iodide on human spermatozoa. There are apparently a limited number of target sites for elastase on spermatozoa surface, because the further enhancement of elastase amount did not fasten alterations in spermatozoa parameters. Analysis of flow cytometry data revealed that most spermatozoa were in a necrotic state after an exposure with elastase for 22 h. Some apoptotic cells were only detected at shorter incubation periods. Seminal plasma prevented in a concentration-dependent manner the PMN elastase-mediated loss of vitality of spermatozoa. We detected by blotting techniques large amounts of α1-antitrypsin in seminal plasma. This antiproteinase is known to inactivate elastase at inflammatory sites. Increasing concentrations of α1-antitrypsin prevented gradually spermatozoa deterioration induced by elastase. Thus, α1-antitrypsin contributes to an efficient protease/antiproteinase balance in seminal plasma. A disturbed balance will promote the development of chronic inflammations which can also be the reason for male infertility problems. [ABSTRACT FROM AUTHOR]

Infertility affects one in seven couples in the western world and this figure may rise as more women are delaying parenthood. It is a major cause of psychological and marital stress and, hence, deserves to be managed as a disease entity along with more traditionally recognized diseases. This article deals with the causes of both male and female infertility, initial assessment and investigations for the couple along with general advice to help them conceive in the primary care. Further assessment and investigations should be undertaken in a dedicated infertility clinic either at secondary or tertiary level. [ABSTRACT FROM PUBLISHER]

Background: Male infertility is an increasing problem in all domestic species including man. Localization and identification of genes involved in defects causing male infertility provide valuable information of specific events in sperm development. Correct condensation of the sperm head and development of the acrosome are required for fertile sperm. In the Finnish Yorkshire pig population a knobbed acrosome defect (KAD) has been reported which appears to be of genetic origin. In previous studies we have shown that a large number of affected spermatozoa have a cystic swelling anterior to the apical part of the acrosome. Results: Characterization of the knobbed acrosome affected sperm revealed that both the acrosomal granules and chromatin are affected. This type of KAD appears to be a previously unknown and serious form of the defect. A genome wide scan with PorcineSNP60 Genotyping BeadChip defined the KAD associated region within 0.7 Mbp on porcine chromosome 15. Two genes, STK17b and HECW2, located within this region were sequenced. The expression of these genes appeared comparable in KA-affected and control boars. The known function of HECW2 in acrosome development highlighted this gene as a good candidate responsible for the KAD. One nonsynonymous SNP was identified within the HECW2 gene. However, as this mutation was found in homozygous state in individuals with normal sperm, this is not likely to be the causal mutation. Conclusions: In this study we identified two candidate genes for a severe defect affecting both the sperm acrosome and chromatin that causes infertility. One of these genes, HECW2, plays an important role in ubiquitination, a prerequisite for chromatin remodelling and acrosome formation, highlighting the involvement of this gene in the knobbed acrosome defect and male infertility. [ABSTRACT FROM AUTHOR]