Y Chromosome Microdeletion Research Articles

Male infertility in Pakistan exhibits unique genetic patterns due to high consanguinity rates (65%). This systematic review of 38 studies (2015-2025) analyzed 2,041 participants (1,503 infertile men, 538 controls) using whole-exome sequencing (WES). Key findings reveal distinct genetic causes and inheritance patterns specific to this population. Chromosomal abnormalities affected 20.9% of azoospermic men, primarily Klinefelter syndrome (14.7%). Y-chromosome microdeletions occurred in 8% of cases, mostly in the AZFc region (50%). We identified 72 pathogenic variants across 58 genes, with 70.8% being novel to Pakistani populations. Consanguinity drove homozygous inheritance in 72.2% of cases. The most frequently mutated genes included ADAD2 (30% of non-obstructive azoospermia), HFM1 (20%), and DNAH family members (28.7% of motility defects). Variant types comprised frameshift (38.9%), missense (33.3%), nonsense (16.7%), and splicing mutations (11.1%). Significant biochemical markers included the CAT rs7943316 TT genotype (70.9% vs 14% controls) and elevated oxidative stress markers. These findings establish the first comprehensive genetic profile of Pakistani male infertility, demonstrating the profound impact of consanguinity on disease expression. The results emphasize the need for population-specific diagnostic protocols that prioritize DNAH/CFAP genes for motility disorders and ADAD2 for non-obstructive azoospermia. This review provides critical insights for genetic counseling and clinical management in high-consanguinity populations.

Male infertility and its ties to next generation sequencing as a new forward path to definite diagnoses.

Rationale:Bone marrow transplantation (BMT) is an established therapy for hematological malignancies. In recent years, with the advancement of medical research, evaluating the efficacy of BMT in recipients by detecting the presence or absence of chromosomes from an opposite-sex donor has been widely recognized. Numerous cases have shown that the sex hormone levels of recipients who receive BMT from the opposite sex will change significantly. However, whether such hormonal changes will impair sexual function or lead to physiological sex-related manifestations, or even cause changes in the biological sex of BMT recipients, these questions make people cannot help but think deeply. Herein, we report a case of a male patient who received allogeneic BMT from a female donor, demonstrating that transplantation only replaced the recipient’s hematopoietic stem cells and did not change the patient’s biological sex.Patient concerns:We report a 22-year-old male who was diagnosed with azoospermia during a recent physical examination and sought medical attention at our hospital.Diagnoses:Semen examination showed no sperm, and the analysis of the peripheral blood chromosome karyotype is 46,XX. The preliminary clinical diagnosis is azoospermia with sexual dysfunction.Interventions:The results of Y-chromosome microdeletion in peripheral blood could not be interpreted. After reviewing the patient’s history, we only found that he had received a BMT from an opposite-sex donor for chronic myelocytic leukemia 14 years ago, when he was only 8 years old. The peripheral blood and buccal mucosal swabs were collected for Y-chromosome microdeletion examination again. At this point, the truth has finally come to light: At this point, the etiology became clear: The patient’s peripheral blood showed chimeric DNA from both the BMT donor and recipient, while the buccal mucosal swabs—originating from embryonic development—accurately reflected his pretransplantation genetic profile.Outcomes:The patient, being only 22 years old and having no intention of getting pregnant at present, received no further medical treatment.Lessons:This case report demonstrates that while sex-mismatched BMT may alter secondary sexual characteristics, it does not fundamentally change the recipient’s genetic sex or core gender identity.

ABSTRACT: Infertility is a significant disorder of the male or female reproductive system, defined by the failure to conceive after twelve months or more of unprotected sexual intercourse. Around 9% of males and 10% of females aged 22-44 reported trouble in reproducing. Y-chromosome microdeletions within the azoospermia factor (AZF) regions represent a major genetic cause of male infertility. In the current study, sperm morphological examination was performed using Papanicolaou staining to identify spermatozoa abnormalities. Gene scanning for sY242 (AZFc sub-region) microdeletion was performed by STS-PCR. Total of 100 semen samples (67 normozoospermia, 30 oligozoospermia and 3 azoospermia including blood) were examined for sperm morphological abnormalities and Y chromosomal microdeletion. Eighty-seven samples showed variable amount of sperm defects whereas 13 samples showed high amount of head, tail and mid piece defects. Gene scanning at sY242 using STS-PCR technique showed microdeletion in the 13 samples which includes 5 normozoospermic (7.46%), 7 oligozoospermic (23.33%) and 1 Azoospermic (33.3%) males. Our findings suggest that there is a involvement of sperm morphological defects during sY242 microdeletion in the studied infertile males. However, the study can be extended for more number of samples to rule out actual frequency of microdeletion at sY242 gene and its association with sperm morphological defects. This study will be of great help to infertility clinics for genetic counseling and assisted reproduction.

Male infertility causes problems in 7% of worldwide men which creates major difficulties for reproductive health and family planning. A combination of genetic factors and epigenetic factors with environmental elements and lifestyle choices creates causes of this condition. The treatment options available through assisted reproductive technologies (ART) give hope to couples yet we still know only a few aspects of genetic and epigenetic influences related to male infertility. Studies regarding ethnic differences have demonstrated that infertility incidence rates together with biological causes show substantial variation between different cultural groups. The differences become visible through both genetic mutation frequencies along with alterations in epigenetic controls of reproductive functions. Male infertility suffers from genetic elements that comprise Y-chromosome microdeletions and gene mutations in addition to single nucleotide polymorphisms (SNPs). Fewer studies have been conducted on different ethnic groups because their occurrence rates between populations show significant differences. The development of sperm cells depends critically on epigenetic processes which include DNA methylation and histone modification mechanisms. The modifications affect spermatogenesis and result from genetic factors along with environmental conditions that include diet and lifestyle habits and toxic exposures where these variances differ among ethnic groups. The understanding of genetic and epigenetic variations across ethnic populations creates essential effects on diagnosing and treating male infertility. The use of ethnic-specific profiles for diagnostic and treatment selection enhances both accuracy rates and treatment success outcomes. The analysis of ethnic differences makes the possibility of developing targeted reproductive healthcare initiatives along with methods to decrease reproductive health inequality. The article investigates the ways that genetic along epigenetic variations between ethnic populations affect male infertility rates. This review brings together existing knowledge while demonstrating unmet needs to underline the need for ethnic perspectives in studies involving infertility. The research advances methods for developing better specific diagnoses and treatment options for male infertility worldwide.

Non-obstructive azoospermia (NOA) is a condition of testicular failure caused by various factors. To retrieve sperm in NOA patients, microdissection testicular sperm extraction (micro-TESE) is a highly effective technique. The present study aimed to evaluate successful sperm retrieval (SSR) in NOA patients across different etiologies in the Iranian population to identify predictive factors. This retrospective analysis included 566 NOA patients undergoing micro-TESE from 2018 to 2023, with 58 histories of Cryptorchidism, 40 Klinefelter syndrome (KS), 6 Y chromosomal microdeletions (YCMDs), 6 histories of chemotherapy, 5 mumps orchitis, and 451 patients with idiopathic reasons. The overall SSR was 43.2%, with a significantly lower SSR in the KS group (p = .012). Patients with higher average ages tended to have higher SSR rates, especially in the idiopathic group. Hormone levels differed among the groups, with higher follicle-stimulating hormone and luteinizing hormone levels in the YCMDs group, higher testosterone levels in the idiopathic and Cryptorchidism groups, and higher prolactin levels in the KS group. There were no significant differences in other clinical characteristics between the SSR and sperm retrieval failure groups, except for a positive relationship between prolactin levels and SSR rates in the KS group (r = .45, p = .003). Our data underscores that underlying etiology and genetic background may reveal more valuable predictive value than age, hormone levels, and testicular volume. This finding suggests that no patient with NOA should be deprived of micro-TESE based on candidate predictors of SSR presented to date.

Besides non-obstructive azoospermia, other conditions also benefit from the use of testicular sperm extraction, but their clinical outcomes remain to be explored in detail. To compare the use of fresh and frozen testicular spermatozoa in patients submitted to testicular sperm extraction because of idiopathic or secondary non-obstructive azoospermia, and after recurrent failed intracytoplasmic sperm injection attempts using ejaculated or aspirated testicular spermatozoa. We retrospectively evaluated 325 patients with normal karyotypes and absence of Y-chromosome microdeletions that used testicular sperm extraction for fertility treatments. Comparisons included detailed embryological, clinical, and newborn outcomes. Patients underwent 503 treatment cycles, 269 with fresh and 234 with frozen testicular spermatozoa. No significant differences were observed between fresh and frozen spermatozoa regarding clinical pregnancy (38.0%/43.2%), live birth delivery (32.2%/34.0%), and newborn (40.1%/43.2%) rates, the same being observed in cumulative clinical pregnancy (47.9%/48.5%), live birth delivery (41.7%/38.3%), and newborn (50.4%/48.5%) rates. Also, no significant differences were observed between fresh and frozen spermatozoa per pathology (idiopathic or secondary non-obstructive azoospermia, cryptorchidism, abnormal semen parameters, cryptozoospermia, obstructive azoospermia, and anejaculation). However, in idiopathic non-obstructive azoospermia, frozen embryo transfer cycles from fresh sperm cycles evidenced significantly higher rates of live birth delivery and newborn. As cycles with frozen spermatozoa evidenced significantly higher female age, time of infertility, and basal follicle stimulating hormone, and significantly lower number of follicles, female characteristics were thereafter individualized. The presence of mixed factors did not affect outcomes. Good ovarian response cases exhibited significantly higher rates of implantation and newborn, whereas younger women cases showed significantly higher rates of implantation, clinical pregnancy, and newborn; however, when fresh spermatozoa were compared to frozen spermatozoa, these differences were no longer present. Data provide detailed embryological, clinical, and newborn outcomes associated with specific conditions in which testicular sperm extraction was required. It also highlights no detrimental effects on outcomes when frozen testicular spermatozoa is used.

What is the optimal sperm concentration threshold for screening Y-chromosome microdeletions (YCMs) in male infertility patients? This study identified three clinically relevant screening thresholds: an receiver operating characteristic (ROC)-optimal cutoff at 0.45 million sperm/ml, a high-sensitivity cutoff at 8 million sperm/ml, and a cost-effective threshold at 1 million sperm/ml. YCMs are the second most common genetic cause of male infertility, however, current screening thresholds remain controversial due to limited supporting evidence. This retrospective multi-centre cohort study included 6806 male patients who underwent fertility assessments and azoospermia factor (AZF) gene testing between September 2013 and January 2024. ROC analysis was used to determine the AUC to show the effectiveness of sperm concentration for predicting AZF deletions. The sensitivity and specificity of different sperm concentration screening thresholds were measured. The incidence of YCMs was found to be 12.71% in non-obstructive azoospermia patients, 13.35% in patients with sperm concentrations between 0 and 1 million/ml, and 3.56% in those between 1 and 5 million/ml. ROC analysis demonstrated that sperm concentration was a good predictor of AZF deletions (AUC: 0.75, 95% CI: 0.74-0.77). The optimal threshold of 0.45 million/ml yielded a sensitivity of 86.84%, specificity of 59.97%, positive predictive value (PPV) of 13.48%, and negative predictive value (NPV) of 98.45%. A threshold of 8 million/ml achieved maximum sensitivity of 100.00% and NPV of 100.00%, but with specificity of 30.32% and PPV of 9.34%. The model showed good calibration with a Brier score of 0.06 and a goodness-of-fit test P-value of 0.726. Cost-effectiveness analysis revealed that a threshold of 1 million/ml provided the lowest incremental cost-effectiveness ratio. Firstly, despite being the largest cohort study to date, our data primarily originated from eastern China, particularly the Zhejiang region. A nationwide multi-centre study could further validate our findings across different Chinese populations. Secondly, our cost-effectiveness analysis uses general gross domestics product-based willingness-to-pay thresholds, while disease-specific thresholds might be more appropriate and could be explored through nationwide surveys. Moreover, it is important to note that our cost-effectiveness findings are specifically based on the Chinese healthcare system and may not be directly applicable to other countries due to variations in healthcare systems, insurance coverage, and patient payment responsibilities across different regions globally. Another limitation of our cost-effectiveness analysis is that it may not fully capture the complex downstream implications of YCM detection in non-azoospermic men, where the primary impact relates to reproductive choices. Future studies should consider incorporating intergenerational effects and the potential costs of ART in subsequent generations when evaluating the true cost-effectiveness of YCM screening strategies. Thirdly, while we rigorously excluded cases with obstructive factors, the retrospective nature of our study might have introduced an inherent selection bias that could be addressed in future prospective studies. Fourthly, due to challenges in data collection, precise information on abstinence duration for some patients was unavailable and, therefore, not included in this article. We plan to further explore their potential impact on our conclusions in future prospective studies. This large-scale study provides comprehensive evidence for optimizing YCM screening strategies in male infertility evaluations. This project was supported by the Medical and Health Technology Program of Zhejiang Province (2025KY085), the Zhejiang Health Information Association Research Program (2024XHSZ-Z05), the Scientific Research Fund of Zhejiang Provincial Education Department (Y202249537), and the National Natural Science Foundation of China (82471638). There are no known competing interests. N/A.

To characterize the potential role of Y-chromosome microdeletion (YCM) as a genetic cause for infertility in the Arab population from the Al Madinah Al Munawarah. We screened 97 infertile men from Al Madinah Al Munawarah, from February 2022 to March 2024. Genomic blood DNA was analyzed for 8 sequence tagged site (STS) markers of Y chromosome by multiplex polymerase chain reaction. We found microdeletions in 3 infertile men, indicating a prevalence of 3.1%. The STS markers sY254 and sY255 corresponding to AZFc regions were deleted in these men. No deletion was observed in any other STS markers investigated in this study. Our findings for prevalence in Arab population of Al Madinah Al Munawarah is comparable to other studies from Saudi Arabia. However, large variance in the prevalence of YCM in the Arab population of other Middle Eastern countries is reportedly observed. The YCM has significant prognostic value, since it indicates the spermatogenic profile, the success probability of assisted reproduction technique (ART) procedures as testicular sperm extraction and apprise of potential risk of vertical transmission of microdeletion from father to son in patients opting for ART. With these considerations, we re-emphasize the need for genetic screening of YCM in azoo- and oligozoospermic infertile men.

Male factors have contributed to at least 50% of all infertility cases worldwide. Numerous factors causing male infertility have been identified, one of which is azoospermia due to genetic defects. The detection of Y-chromosome microdeletion may assist in diagnosing male infertility as well as predicting the success rate of testicular sperm extraction. A man in his mid-thirties visited the Andrology outpatient clinic at Dr. Soetomo General Hospital accompanied by his wife. They have been married for eight years and have had regular unprotected sexual intercourse, but pregnancy has never been achieved. The patient’s semen analyses showed azoospermia in three examinations conducted at different times. Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) were significantly increased, and genetic screening showed microdeletion in the Azoospermia Factor b (AZFb) subregion. Y-chromosome microdeletion is the second most common genetic defect causing azoospermia after Klinefelter syndrome. The AZF region in the distal part of the Y chromosome plays a key role in regulating spermatogenesis. Mutation or loss of any subregions in this factor may affect spermatogenesis, with the worst outcome being azoospermia. Detailed examinations are important to determine the cause of azoospermia, which may assist a physician in choosing the appropriate management for this condition. Infertile men with Y-chromosome microdeletion face challenges in reproducing naturally. They may also need genetic counseling regarding the possibility of passing on this genetic defect to their offspring and information on how to prevent it.

We aimed to explore whether a Y chromosome microdeletion (YCM) confers adverse effects on surgical sperm retrieval potential and intracytoplasmic sperm injection (ICSI) outcomes in men with azoospermia and severe oligospermia. This was a retrospective cohort study that included infertile men with azoospermia or severe oligospermia who were evaluated for karyotype analysis and YCM testing at a university-affiliated hospital between 2010 and 2022. Outcomes of microdissection testicular sperm extraction (mTESE) for surgical sperm retrieval were compared between men diagnosed with YCM and the control group, in which no YCM was found. Additionally, patients from each group who underwent in vitro fertilization (IVF)-ICSI cycle using ejaculated sperm or surgically retrieved mature spermatozoa were compared regarding their IVF-ICSI cycle outcomes, fertilization rates, cleavage, and blastocyst formation, and clinical pregnancy rates. A total of 116 azoospermic and oligospermic men who underwent YCM testing were included in the study: 19 with YCM and 97 without. Overall, nine mTESE procedures were performed for patients with YCM and 38 for men from the control group. There were no significant differences between the YCM and control groups in mature sperm retrieval rates (11.1% vs. 26.3%, p=0.663), although a trend towards higher rates of elongated and round spermatids as the most mature germ cell was noted in the YCM group (66.7% vs. 28.9%, p=0.054). Of the 13 men with mature sperm - either ejaculated or surgically retrieved (mTESE) - that had known ICSI cycle outcomes, three men had proven YCMs and 10 controls had no identified YCMs. Basic characteristics were similar between the groups, except for testosterone levels, which were higher in the YCM group (23.0±13.1 vs. 9.4±6.4 nmol/L, p=0.027). Fertilization rates and cleavage rates were similar between the YCM and control groups (42.3% vs. 49.7% and 42.3% vs. 39.3%, p=0.491 and 0.774, respectively). Blastocyst formation rates, and pregnancy rates, while not statistically significant, showed a trend for favorable outcomes in the control group compared to the YCM group (24.1% vs. 7.7%, 72.7% vs. 20.0%, p=0.078 and 0.106, respectively). YCM does not affect sperm retrieval rates. Fertilization and cleavage rates are not impaired by microdeletions, while blastocyst formation rates and clinical pregnancy rates per embryo transfer follow a non-significant trend for unfavorable outcomes in the YCM group. Clinical and embryonic development results should be interpreted with caution, as these groups are relatively small.

Y chromosome microdeletions (YCMD) are a common cause of azoospermia and oligozoospermia in men. Herein, we developed a machine learning-based web tool to predict sperm retrieval rates and success rates of assisted reproduction (ART) in men with YCMD. Data on ART outcomes of men with YCMD who underwent ART were extracted from published studies by performing a systematic review. This data was used to develop a web-based predictive algorithm using machine learning. FertilitY Predictor classifies the type of YCMD into AZFa, AZFb, AZFc, their combinations, and gr/gr deletions based on the genetic markers as input. Further, it predicts the probability of sperm retrieval, fertilization rate, clinical pregnancy rate, and live birth rate based on the type of YCMD. Validation studies demonstrated its high accuracy and predictability for sperm retrieval, clinical pregnancy rates, and live birth rates. The tool predicts that men with deletions have a chance of sperm retrieval that varies with type of deletions, the clinical pregnancy rates and live birth rates are lower in men with AZF deletions. A trial version of the tool is available at http://fertilitypredictor.sbdaresearch.in . FertilitY Predictor allows users to classify AZFa, AZFb, AZFc, and gr/gr deletions and also predict the outcomes of ART based on the type of deletions. PROSPERO (CRD42022311738).

We aimed to assess the frequency of Y-chromosome microdeletions (YCMs) in a non-multiethnic urban population in our region, define predictive factors, and determine a new clinical threshold for YCMs in infertile men. A total of 281 patients with a sperm concentration ≤5 million/mL were retrospectively evaluated. Oligozoospermic and/or azoospermic patients with a sperm concentration of ≤5 million/mL were screened for the YCM analysis. Y-chromosome microdeletion was detected in 9 (3.2%) of the 281 patients. All patients with YCM were azoospermic. The presence of azoospermia, a high folliclestimulating hormone level, and a high luteinizing hormone level were found to be important determinants for the identification of a microdeletion (P = .002, P = .002, and P=.021, respectively). If the presence of azoospermia and a sperm concentration threshold of <1 million/mL had been applied for the YCM test, the number of tests performed would have been reduced by 54.4% (153 tests) and 42.7% (120 tests), respectively, resulting in cost saving of approximately $11 474 and $9000, respectively. We recommend that the threshold for sperm concentration for YCM analysis be set at <1 million in individuals in developed countries and only in patients with azoospermia in developing countries, in order to reduce costs and save labor by excluding unnecessary tests. These proposed thresholds (azoospermia and sperm counts less than <1 million/mL) provide cost-effectiveness by significantly reducing the number of genetic tests ordered without affecting the diagnosis rate.

A Nomogram Predicting Testicular Sperm Extraction Success in Men With Non-obstructive Azoospermia: A Multi-center Study

Background: Infertility is a global health issue implicated to sociocultural, environmental, health care practice and genetic factors in both male and female individuals. Oligozoospermic and azoospermic conditions reported to be associated with Y chromosome microdeletions (YCDs) in various loci. Objective: The purpose of the present study was to investigate Y chromosome microdeletions in azoospermic individuals attending fertility clinics, focusing on the SRY239, SRY242, and SRY254 alleles. Methodology: This cross-sectional study was conducted in the Department of Physiology and Molecular Biology at Bangladesh University of Health Sciences, Dhaka, Bangladesh involving 20 infertile males. Appropriate procedures were followed to address ethical aspects. Demographic and clinical data were collected using structured questionnaire. One milliliter blood sample was collected for DNA extraction and downstream analysis. AZFc markers SY239, SY242 and SY254 alleles were determined by standard polymerase chain reaction (PCR). Data were expressed as number (percent) and figures as appropriate. A value &lt; 0.05 was taken as level of significant. Results: Age (years) range of the 20 adult infertile azoospermic male was 25-50 with mean (±SD) 39 ±8. Of the 20 subjects 15 (75%) was smoker, 5 (25%) hypertensive and 2 (10%) diabetic. By profession their distribution includes day labors 4 (20%), businessman 8 (40%), garments workers 4 (20%), hawker 2 (10%) and teacher 2 (10%). Among 2 (10%) garments workers show their AZFc fragments deletions. Of the 20 men, azoospermia factor region (AZFc) SRY239 and SRY254 allele deletion were present in 4 individuals. The AZFc variant allele SRY242 was normal in all 20 men. Of the 4 individual present the SRY239 and SRY254 2 were obese. Conclusion: Y-chromosome microdeletion AZFc region allele markers SRY239 and SRY254 are present in azoospermic male but the AZFc SRY242 was of wild type. Presence of candidate allele detection did not show any relationship with study variables possibly due to small number of samples. To reach conclusive finding of AZFc mutations affecting male infertility, study need to be confirmed by recruiting substantial number of cases and carrying out the investigation at the early stage. Bangladesh Journal of Infectious Diseases, June 2024;11(1):22-29

Updates to Male Infertility: AUA/ASRM Guideline (2024).

The long arm of the Y chromosome (Yq) contains many amplified and palindromic sequences that are prone to self-reorganization during spermatogenesis, and tiny submicroscopic segmental deletions in the proximal Yq are called Y chromosome microdeletions (YCM). A retrospective study was conducted on male infertility patients of Zhuang ethnicity who presented at Reproductive Medical Center of Nanning between January 2015 and May 2023. Seminal fluid was collected for standard examination. YCM were detected by using a combination of multiplex PCR and agarose gel electrophoresis. Preparation of peripheral blood chromosomes and karyotyping of chromosomes was performed. 147 cases (9.22%) of YCM were detected in 1596 male infertility patients of Zhuang ethnicity. Significant difference was found in the detection rate of YCM between the azoospermia group and the oligospermia group (P < 0.001). Of all types of YCM, the highest detection rate was AZFc (n = 83), followed by AZFb + c (n = 28). 264 cases (16.54%) of sex chromosomal aberrations were detected. The most prevalent karyotype was 47, XXY (n = 202). The detection rate of sex chromosomal aberrations in azoospermia group was higher than that in severe oligospermia group and oligospermia group, and the differences were significant (P < 0.001). 28 cases (1.57%) of autosomal aberrations and 105 cases (6.58%) of chromosomal polymorphism were identified. The current research has some limitations due to the lack of normal men as the control group but suggests that YCM and chromosomal aberrations represent key genetic factors influencing spermatogenesis in infertile males of Zhuang ethnicity in Guangxi.

BackgroundInfertility is an important health problem, affecting couples worldwide. Non-obstructive azoospermia is the most severe form of azoospermia, which is mostly idiopathic or caused by different causes such as chemotherapy and genetic disorders. Testicular fine needle aspiration (or testicular sperm aspiration (TESA)) is simple, cost-effective and less invasive than testicular sperm extraction.Materials and methodsThree hundred twenty Middle Eastern patients with NOA were recruited in this study. The patients underwent routine infertility assessment including medical, surgical, and reproductive history, physical examination, semen analysis, and hormonal profile including FSH, Testosterone, and inhibin B in addition to Genetic assessment including karyotype and Y-chromosome micro-deletion.ResultsTesticular sperm aspiration was positive in 70 patients (22.18%). Serum FSH levels were clearly elevated in the patients with negative sperm retrieval (mean = 21.39 U/L), while they were reduced in the patients with positive sperm retrieval (mean = 14.61 U/L). Testosterone value did not clearly correlate with the results of testicular sperm aspiration in the two groups of patients, and testicular volume was normal for most of the patients in the two groups. Patients with Y-chromosome micro-deletion were 11.22% of the total patients studied and they had negative TESA results, while 13.12% of patients had Klinefelter Syndrome and their TESA results were negative.ConclusionWe confirmed that there are many factors that negatively affect Testicular sperm aspiration results: high FSH and low inhibin B levels, smoking, and genetic disorders. Despite the absence of sperm in the semen, some NOA patients have a chance to have children by using this technique.

Male infertility is the inability of a male to conceive a fertile female during at least a year of unprotected sexual activity. A variety of medical conditions and treatments cause male infertility. Y chromosome microdeletion is an important cause of infertility among males. Various epidemiological factors also play a role in the occurrence of infertility. Our study aims to determine the association between Y-chromosome microdeletion and age, sperm count, body mass index (BMI), alcohol, and tobacco consumption. This study was conducted in 70 male infertility cases. Data was collected from 2018 to 2023 at the Genetic Lab, Department of Anatomy, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India. Demographic profiles, including age, sperm count, weight and height, and history of smoking and drinking, were collected from individuals. BMI was calculated, and chromosome analysis was done for Y chromosome microdeletion. Both multiplex and singleplex methods were used to determine the microdeletion using a thermocycler (Applied Biosystems, VeritiTM96-well Fast Thermal Cycler, 0.2 ml USA) in AZF, and the association between age, sperm count, BMI, alcohol, and tobacco was determined. The number of regions deleted among individuals varies from one to seven. Regions Sy746, Sy143, and Sy145 were found to be commonly deleted. We found a positive, but not statistically significant, correlation between age and microdeletion (point biserial correlation coefficient (r) = 0.2, p-value = 0.097). When comparing age with sperm count, the results showed a negative correlation, highlighting the influence of age on sperm count (r (68) = 0.284, p = 0.017). In comparing BMI and microdeletion, no significant relationship (χ² = 3.7, p = 0.296) indicated independence between them. According to our observations, microdeletion affects all smokers and 45% of non-smokers. We found a significant association between smoking and microdeletion (χ2 = 4.49, P = 0.034). There was no statistically significant relationship between microdeletion and drinking (χ²(3) = 5.65, p = 0.13). We discovered a significant positive association between smoking and a positive, but not statistically significant, correlation between age, BMI, and drinking, as well as a microdeletion. There are probably a lot of unidentified variables that affect successful fertilization and implantation. These could include variables that affect fertility and the success of reproduction on an environmental, genetic, and epigenetic level. The study reveals that Y chromosome microdeletion and other epidemiological factors coexist concurrently in cases of infertility. Assessing these variables is crucial for infertile patients. A community-based, comprehensive survey is required to assess the overall consequences of various epidemiological factors on infertility.

Y chromosome microdeletions (YCMs) are one kind of genetic disorder that contributes to male infertility. This study aims to determine the profile of YCMs in the infertile male population in Indonesia. This cross-sectional study was conducted by identifying YCMs testing data on 49 infertile male patients identified with azoospermia and oligoasthenoteratozoospermia (OAT) based on their sperm analysis, who visited andrology polyclinics in several hospitals in Yogyakarta Province between March 2021 to August 2022. Study participants underwent YCMs testing at the Molecular Medicine and Therapy Research Laboratory, Muhammadiyah University of Yogyakarta, Indonesia, using the Polymerase Chain Reaction (PCR) method according to the procedures established by the laboratory. Four out of 49 (8.2%) participants were identified to have YCMs with deletions in the Azoospermia Factor C (AZFc) subregion. Two participants identified with YCMs had cryptozoospermia in their sperm analysis. Hormonal examination showed variable results in 4 participants, including hypergonadotropic, hypogonadism, and normogonad. All participants in the study identified with YCMs showed a deletion in the AZFc subregion. This type of deletion is different from previous studies in Indonesia, so broad examinations of infertile male patients are required to figure out the deletion profile in a larger population of Indonesian sterile males.