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1.
Mol Biol Rep ; 51(1): 588, 2024 Apr 29.
Article in English | MEDLINE | ID: mdl-38683237

ABSTRACT

BACKGROUND: Mechanisms by which varicocele causes infertility are not clear and few studies have reported that some miRNAs show expression alterations in men with varicocele. Recently, sperm promoter methylation of MLH1 has been shown to be higher in men diagnosed with varicocele. This study aimed to assess the potential effects of miR-145, which was determined to target MLH1 mRNA in silico on sperm quality and function in varicocele. METHODS: Sperm miR-145 and MLH1 expressions of six infertile men with varicocele (Group 1), nine idiopathic infertile men (Group 2), and nine fertile men (control group) were analyzed by quantitative PCR. Sperm DNA fragmentation was evaluated by TUNEL and the levels of seminal oxidative damage and total antioxidant capacity were analyzed by ELISA. RESULTS: Our results have shown that sperm expression of miR-145 was decreased in Group 1 compared to Group 2 (P = 0.029). MLH1 expression was significantly higher in Group 2 than the controls (P = 0.048). Total antioxidant level and sperm DNA fragmentations of Group 1 and Group 2 were decreased (P = 0.001 and P = 0.011, respectively). Total antioxidant capacity was positively correlated with sperm concentration (ρ = 0.475, P = 0.019), total sperm count (ρ = 0.427, P = 0.037), motility (ρ = 0.716, P < 0.0001) and normal morphological forms (ρ = 0.613, P = 0.001) and negatively correlated with the seminal oxidative damage (ρ=-0.829, P = 0.042) in varicocele patients. CONCLUSION: This is the first study investigating the expressions of sperm miR-145 and MLH1 in varicocele patients. Further studies are needed to clarify the potential effect of miR-145 on male fertility.


Subject(s)
DNA Fragmentation , Infertility, Male , MicroRNAs , MutL Protein Homolog 1 , Oxidative Stress , Spermatozoa , Varicocele , Humans , Male , MicroRNAs/genetics , MicroRNAs/metabolism , Varicocele/genetics , Varicocele/metabolism , Varicocele/pathology , Oxidative Stress/genetics , MutL Protein Homolog 1/genetics , MutL Protein Homolog 1/metabolism , Spermatozoa/metabolism , Adult , Infertility, Male/genetics , Infertility, Male/metabolism , Semen/metabolism , Sperm Motility/genetics , Antioxidants/metabolism
2.
Int Urol Nephrol ; 2024 Apr 30.
Article in English | MEDLINE | ID: mdl-38687440

ABSTRACT

PURPOSE: Many factors influence male sexual function, including metabolic disorders such as metabolic syndrome (MetS). We aimed to investigate the effects of two metabolic indices, the triglyceride-glucose (TyG) index and the visceral adiposity index (VAI), on male sexual function. METHODS: A total of 400 men having sexual dysfunction were included. Anthropological data, comorbidities were recorded. Serum total testosterone, prolactin, and estradiol levels were recorded. Sex-specific VAI was calculated using the [(WC/39.68) + (1.88xMI)] × (TG/1.03) × (1.31/HDL) formula and using Ln (fasting triglycerides) × (fasting glucose)/2] formula, TyG index was calculated. Turkish-validated 15-item long-form of the International Index of Erectile Dysfunction (IIEF) questionnaire and male sexual health questionnaire (MSHQ) were used for erectile function and ejaculatory function, respectively. The ROC analysis was used to evaluate the predictive abilities of TyG and VAI cut-off values for ED risk. RESULTS: A higher TyG index and VAI were associated with an increased risk of ED. The presence of MetS further worsened sexual function, with lower scores in sexual satisfaction, orgasm, desire, and general satisfaction. The TyG index and VAI showed similar predictive abilities for ED. Patients with MetS had worse ejaculation quality compared to those without MetS. CONCLUSIONS: These findings highlight the potential of the TyG index and VAI as convenient tools for predicting and assessing sexual dysfunction in men, particularly in the context of metabolic disorders. Early detection and intervention for metabolic syndrome and insulin resistance may help to mitigate their negative impact on male sexual function.

3.
Reprod Sci ; 31(1): 267-274, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37710087

ABSTRACT

Male infertility is a multifactorial heterogeneous reproductive disorder in which genetic, epigenetic, and environmental factors play a role in the development of disease. Recent studies have shown that retrotransposon expression alterations may be related to impairment of spermatogenesis. Therefore, in this pilot study, we aimed to investigate whether HERV-K6 and HERV-K11 insertional variations have a role in idiopathic infertility among normozoospermic men. Genomic DNA isolated from the blood samples of 41 infertile normozoospermic and 45 fertile normozoospermic men were analyzed by inter-retrotransposon polymorphism polymerase chain reaction. HERV-K6 variation rates in the infertile and the fertile group were 0-58.3% and 0-53.4%, respectively. The variation rates of HERV-K11 were 0-75.0% in infertile and 0-77.8% in fertile men. The HERV-K6 and HERV-K11 insertion rates of the fertile group were higher than the infertile group (P < 0.0001 and P = 0.007, respectively). The findings of the study suggest that HERV-K6 and HERV-K11 retrotransposon insertion show variation among individuals, and their insertions might be associated with male infertility.


Subject(s)
Infertility, Male , Retroelements , Humans , Male , Pilot Projects , Infertility, Male/genetics , Infertility, Male/metabolism , Fertility/genetics , Spermatogenesis/genetics
5.
J Assist Reprod Genet ; 39(12): 2799-2810, 2022 Dec.
Article in English | MEDLINE | ID: mdl-36251127

ABSTRACT

PURPOSE: Sex chromosome abnormalities are associated with male infertility. The aim of this study was to characterize the clinical, cytogenetic, and molecular findings of 12 infertile men with isodicentric Y-chromosome [idic(Y)] abnormalities diagnosed over a period of 13 years. MATERIALS AND METHODS: Chromosomal analyses of peripheral blood samples were done using standard procedures. Fluorescence in situ hybridization (FISH) analysis was performed on metaphase spreads of the patients. Multiplex polymerase chain reaction (PCR) using several sequence-tagged site (STS) primer sets within the long arm of Y-chromosome was used to detect AZF deletions.The breakpoints and copy number variations (CNV) were identified by array comparative genomic hybridization analysis (aCGH) analysis.The short-stature homeobox (SHOX) gene deletions were verified using multiplex ligation-dependent probe amplification (MLPA) analysis. RESULTS: Twelve infertile men were diagnosed cytogenetically with idic(Y). The karyotypes of two of the patients were non-mosaic, and the remaining karyotypes showed various degrees of mosaicism. SHOX gene deletion was found in two of the four patients with short stature, and the remaining two patients had shown a 45,X dominant cell line (33.3%). The most common breakpoints for idic(Yq) and idic(Yp) were found to be in Yq11.222 and Yp11.32, respectively. Semen analysis of ten patients (83.3%) demonstrated azoospermia, and the remaining two patients (16.7%) showed severe oligoasthenoteratozoospermia (OAT). In total, 33% (4/12) of idic(Y) patients with or without microsurgical testicular sperm extraction (microTESE) had sperm retrieval. CONCLUSIONS: Twelve patients with idic(Y) and different breakpoints of Y-chromosome were characterized using multiple detection strategies. Sperm retrieval outcomes of patients either with idic(Yp) or idic(Yq) showed the possibility to find sperm by microTESE.


Subject(s)
Azoospermia , Infertility, Male , Humans , Male , Azoospermia/genetics , Sperm Retrieval , In Situ Hybridization, Fluorescence , Comparative Genomic Hybridization , DNA Copy Number Variations , Chromosomes, Human, Y/genetics , Semen , Infertility, Male/genetics , Mosaicism , Sex Chromosome Aberrations , Chromosome Deletion
6.
Andrologia ; 54(5): e14383, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35124809

ABSTRACT

Genetic variants affecting the interaction of FSH-FSHR may negatively affect the male reproductive potential. The aim of this case-control study was to evaluate FSHB c.-211G>T and FSHR c.2039A>G variants in a cohort of infertile men from Central Black Sea Region in Turkey. One hundred and nine infertile men and 50 proven fertile controls were enrolled in the study. Genotyping was assessed by RFLP. The genotype frequencies of FSHB -211G>T and FSHR 2039A>G showed significant variation between infertile and fertile groups (χ2 , p = 0.046, GG vs. GT+TT, and p = 0.008, AA vs. AG+GG). FSHB -211GG was found to be higher in patients with OAT compared to fertile controls (82.3% vs. 64.0%, χ2 , p = 0.028). The distribution of FSHR 2039A>G alleles was different between infertile and fertile men (χ2 , p = 0.005, total infertile vs. fertile groups, p = 0.019, OAT vs. NOA vs. fertile groups). Further analysis showed that the frequencies of FSHR 2039AA wild-type genotype were higher in the oligoasthenoteratozoospermic and non-obstructive azoospermic groups compared with the controls (χ2 , 39.3% vs. 17.0%, p = 0.012, and 37.5% vs. 17.0%, p = 0.025 respectively). Our results showed wild-types of FSHB -211G>T and FSHR 2039A>G variants may cause susceptibility to male infertility in the Central Black Sea Region of Turkey.


Subject(s)
Polymorphism, Single Nucleotide , Receptors, FSH , Black Sea , Case-Control Studies , Follicle Stimulating Hormone, beta Subunit/genetics , Genotype , Humans , Male , Receptors, FSH/genetics , Turkey/epidemiology
7.
Andrologia ; 54(5): e14379, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35102587

ABSTRACT

The aim of this study was to evaluate the data currently available on predictors of sperm retrieval (SR) in infertile men with Klinefelter syndrome (KS). The data of infertile patients with KS who were evaluated for primary infertility in the andrology outpatient clinics of six centres were retrospectively reviewed. SR, fertilization and pregnancy rates were evaluated. While SR was achieved with microscopic testicular sperm extraction (mTESE) in 57.7% of the cases, the positive pregnancy rate was 22%. While mosaicism was significantly associated with achieving pregnancy, it was not significant for SR (p = 0.002 and p = 0.136 respectively). However, receiving medical treatment prior to mTESE was a positive factor for both achieving pregnancy (p = 0.010) and successful SR (p = 0.032). Unsurprisingly, fertilization rate was a variable that increased the pregnancy rate (p = 0.001). In addition, total testosterone value correlated with SR (p < 0.001). For patients with KS, pregnancy can be achieved by obtaining sperm through mTESE, especially in those with mosaic karyotype, normal partner fertility, a high fertilization rate and who receive appropriate medical treatment before mTESE.


Subject(s)
Azoospermia , Klinefelter Syndrome , Azoospermia/complications , Azoospermia/therapy , Female , Humans , Klinefelter Syndrome/complications , Male , Pregnancy , Retrospective Studies , Sperm Retrieval , Spermatozoa , Testis
8.
Andrologia ; 54(2): e14270, 2022 Mar.
Article in English | MEDLINE | ID: mdl-34632603

ABSTRACT

Androgens, testosterone and dihydrotestosterone (DHT) are endocrine regulators of spermatogenesis and act via androgen receptor (AR). The aim of this study was to investigate the association(s) of AR (CAG repeat length), SRD5A2 (rs523349, V89L) and TNF-α (rs1800629, -308G/A) polymorphisms with idiopathic male infertility in Turkish men. This case-control study consisted of 312 men with idiopathic infertility and 113 fertile men. Polyacrylamide gel electrophoresis (PAGE) or PCR-restriction fragment length polymorphism methods were used for genotyping. The mean AR CAG repeat length was significantly longer in infertile men than in fertile men (p = 0.015). However, there was no significant association between the SRD5A2 genotypes (VV, VL and LL) and the risk of infertility (p = 0.516). The genotype frequency and allele distribution of TNF-α -308G/A polymorphism (GG, GA, AA genotypes and G, A alleles) were not associated with male infertility (p = 0.779 and p = 0.743 respectively). AR CAG repeat expansion might be one of the risk factors for idiopathic male infertility in Turkish men. Further studies investigating the association of male infertility with AR CAG, V89L and -308G/A polymorphisms are warranted to understand the possible associations among them.


Subject(s)
Androgens , Infertility, Male , 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics , Case-Control Studies , Humans , Infertility, Male/genetics , Male , Membrane Proteins , Polymorphism, Genetic , Receptors, Androgen/genetics , Spermatogenesis/genetics , Trinucleotide Repeats
9.
Andrologia ; 54(1): e14268, 2022 Feb.
Article in English | MEDLINE | ID: mdl-34632608

ABSTRACT

The present study aimed to investigate the clinical role of standard sperm diagnosis parameters (sperm concentration, motility, morphology) as well as aniline blue staining of histones, 8-OHdG, TUNEL assay were performed on semen samples in infertile men with oligoasthenoteratozoospermia (OAT). Thirty-two infertile and ten proven fertile men were included in the study. Chromatin condensation sperm in infertile men was significantly lower compared to the fertile men (p < 0.0001). Age, sperm concentration, morphology and motility were significantly negatively correlated with chromatin condensation (p < 0.05). However, no significant correlations among the chromatin condensation, SDF and sperm DNA damage were detected in terms of 8-OHdG concentration.


Subject(s)
Asthenozoospermia , Infertility, Male , Oligospermia , Chromatin , DNA Fragmentation , Humans , Male , Semen , Sperm Motility , Spermatozoa
10.
Int J Clin Pract ; 75(10): e14611, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34235836

ABSTRACT

AIMS: To our knowledge, this is the first study investigating the impact of high visceral adiposity index (VAI) on female sexual dysfunction (FSD). We aimed to show the impact of increased levels of VAI on FSD compared with body mass index (BMI) and waist circumference (WC) particularly in those with metabolic syndrome (MeTS). METHODS: We included 158 participants in two groups: Group 1 (n = 68 with normal sexual function) and Group 2 (n = 90 with sexual dysfunction). Demographic, clinic data, presence of MeTS and comorbidities were recorded. The BMI, WC and the VAI were calculated. Sexual function was assessed using the female sexual function index. RESULTS: The mean age and all the anthropometric variables were similar between the groups (P > .05). MeTS was associated with lower arousal and lubrication scores than those without MeTS (P = .023). The higher VAI was associated with lower desire, lubrication and orgasm scores (P < .05). Each integer increase of the VAI weakly predicted decrease of desire (P = .015), arousal (P = .015), lubrication (P = .005) and satisfaction (P = .046). The WC and BMI were not a good predictor for FSD in women (OR=1.019, P = .318). CONCLUSION: The VAI was linked with lower scores in some female sexual function subdomains, but the correlation coefficient was low, indicating a weak association. Further studies with a higher number of participants are needed to conclude that the VAI may increase the risk of FSD, particularly in patients with MeTS.


Subject(s)
Adiposity , Obesity, Abdominal , Body Mass Index , Cross-Sectional Studies , Female , Humans , Obesity, Abdominal/complications , Obesity, Abdominal/epidemiology , Waist Circumference
11.
Int J Clin Pract ; 75(8): e14294, 2021 Aug.
Article in English | MEDLINE | ID: mdl-33928735

ABSTRACT

AIMS: We aimed to investigate fertilisation rates, quality of embryo, pregnancy and live birth rates, endocrine, sexual function, psychological status and quality of life of cases diagnosed with Klinefelter syndrome (KS). METHODS: Clinical findings, hormone values and semen analyses in patients with nonmosaic KS (Group 1, n = 121) and those with non-genetic nonobstructive azoospermia (NOA) (Group 2, n = 178) were retrospectively analysed. Sperm retrieval outcomes with microdissection testicular sperm extraction (micro-TESE), fertilisation rates and embryo quality, pregnancy, abortion and live birth rates were compared. Sexual functions were assessed using IIEF-15, quality of life was evaluated and psychological status was assessed. RESULTS: There was no difference in terms of age between groups. Sperm retrieval rates was 38% and 55.6% in Groups 1 and 2, respectively (P = .012). Sperm retrieval rates were higher in Group 1 before 31.5 years than in Group 2 (AUC = 0.620 and 0.578). Compared to Group 2, the fertilisation rate was low in Group 1, whereas embryo quality was similar. Live birth rates were 12.5% and 23% in Groups 1 and 2, respectively (P = .392). The education level, libido, erectile functions and general health satisfaction were lower in Group 1 than in Group 2 (P < .005). Depression and anxiety levels were higher in Group 2 than Group 1 (P < .001). CONCLUSION: Higher sperm retrieval rate has been achieved in Group 1 younger than 31.5 years. Similar embryo quality is provided between groups. Sexual dysfunction and psychiatric problems were higher in Group 1, with lower satisfaction and general health than Group 2. Patients with KS should be monitored not only with their reproductive functions but also with their general health status.


Subject(s)
Azoospermia , Klinefelter Syndrome , Female , Humans , Male , Pregnancy , Quality of Life , Retrospective Studies , Sperm Injections, Intracytoplasmic
12.
Int J Clin Pract ; 75(6): e14111, 2021 Jun.
Article in English | MEDLINE | ID: mdl-33621419

ABSTRACT

AIMS: Erectile dysfunction (ED) is a common condition affected by many factors. We aimed to show the impact of the metabolic syndrome (MeTS) on male sexual function based on visceral adiposity index (VAI). METHODS: Participants who met MeTS criteria (Group 1, n = 96) and did not meet MeTS criteria (Group 2, n = 189) were included in this cross-sectional study. The MeTS diagnosis was made in the presence of at least 3 of the following criteria: fasting serum glucose level higher than 100 mg/dL, HDL cholesterol level below 40 mg/dL, triglyceride level higher than 150 mg/dL, waist circumference higher than 102 cm and blood pressure higher than 130/85 mmHg. Demographic data were recorded; biochemical and hormonal tests were measured. Erectile and other sexual function scores were recorded. The VAI was calculated using the [(Waist Circumference/39.68) + (1.88 × body mass index)] × triglyceride/1.03 × 1.31/HDL formula. RESULTS: Mean age, smoking volume, testosterone (T) and testosterone/estradiol (T/E2 ) ratios of the groups were similar (P > .05). The mean VAI was two-fold higher in patients in Group 1 (P < .001) and erectile function score was lower in Group 1 than Group 2 (P = .001). Other sexual function scores were similar (P > .05). The METS was associated with an increased risk of ED (P = .001). Logistic regression analysis showed that each integer increase in the VAI was associated with a 1.4-fold increased risk of ED (P < .001). Higher T values were associated with a better erectile function (P = .03). For the VAI = 4.33, receiver-operating characteristic analysis showed a sensitivity of 89.6% and specificity of 57.7%. CONCLUSION: Compared with non-MeTS, the presence of MeTS has emerged as a risk factor for patients with ED with high VAI levels while the other sexual functions are preserved. Management of ED patients with MeTS should cover a comprehensive metabolic and endocrinological evaluation in addition to andrological work up.


Subject(s)
Erectile Dysfunction , Metabolic Syndrome , Adiposity , Body Mass Index , Cross-Sectional Studies , Erectile Dysfunction/etiology , Humans , Intra-Abdominal Fat , Male , Metabolic Syndrome/complications , Risk Factors , Waist Circumference
13.
Turk J Urol ; 47(6): 501-508, 2021 Nov.
Article in English | MEDLINE | ID: mdl-35118969

ABSTRACT

OBJECTIVE: The aim of this study is to show the surgical trend over the past 14 years using the data from five major centers in Turkey with accumulated experience in benign prostatic hyperplasia (BPH) surgery. MATERIAL AND METHODS: This study included 94,954 patients with low urinary tract symptoms (LUTSs) secondary to BPH. By using electronic databases, we identified 7,163 patients who underwent BPH surgery, including monopolar transurethral prostate resection (M-TURP), bipolar transurethral prostate resection (BTURP), transurethral incision of the prostate (TUIP), open prostatectomy (OP), and holmium laser enucleation of the prostate (HoLEP) from 2006 to 2019. The years were grouped as 2006-2010, 2011-2015, and 2016-2019. RESULTS: The total number of outpatient treatments for BPH increased by 72.9% from 5,379 in 2006 to 9,302 in 2019. Until 2019, the annual number of surgeries increased from 375 to 937 (increasing 150%). All surgical approaches for BPH, except TUIP, were most frequently performed between the ages of 60 and 69. The rate of surgery including M-TURP, B-TURP, and TUIP was statistically different between 2006 and 2010, 2011 and 2015, and 2016 and 2019 (P < .001), except OP (P » .071). The highest increase was observed in HoLEP in the first half of the 2010s compared to the second half of the 2010s. The rate of M-TURP decreased from 77.9% to 17.9% from 2016 to 2019. CONCLUSION: With the aging population, the number of patients diagnosed and treated with BPH is increasing. B-TURP as a resection technique and HoLEP as an enucleation technique replace M-TURP. Healthcare services and government spending should be organized according to these data.

14.
Int J Impot Res ; 33(6): 627-633, 2021 Sep.
Article in English | MEDLINE | ID: mdl-32704074

ABSTRACT

We investigated the prevalence of hematospermia among the 161,258 men with ≥18 years old, presenting to outpatient clinics with urologic complaints, between January 2003 and December 2017. We also recorded underlying causes of hematospermia to determine frequency of genitourinary cancer in 342 men who presented with hematospermia. Further evaluations such as urine/semen culture, Meares-Stamey four glass test, transrectal/scrotal ultrasound, pelvic magnetic resonance imaging (MRI), cystourethroscopy, and prostate biopsy were performed in the presence of additional symptoms and findings or recurrence of hematospermia after treatment of patients with monosymptomatic hematospermia. The prevalence of hematospermia was detected as 0.21% (342/161,258) among the urological patients. The mean age of the patients was 45.05 ± 14.04 years (range 18-85), and the median duration of hematospermia was 15 days (range 1-7200). In 306 (89.5%) of the patients, hematospermia was resolved after medical therapy for infections/inflammations, surgery for ductal obstruction and cysts, prostate and testicular cancer. However, 36 (10.5%) had persistent hematospermia. The most relevant etiologic cause of hematospermia was inflammation/infections in 169 patients (49.4%), and genitourinary cancers were detected in only 11 patients (3.2%) as prostate cancer in 8 and testicular cancer in 3. Hematospermia is seen frequently due to inflammatory or infectious causes, and is rarely associated with genitourinary cancer. However, genitourinary cancers should be kept in mind in the differential diagnosis of patients with recurrent/persistent hematospermia and associated symptoms, such as hematuria, lower urinary tract symptom, and scrotal pain/swelling.


Subject(s)
Hemospermia , Testicular Neoplasms , Adolescent , Adult , Aged , Aged, 80 and over , Hemospermia/epidemiology , Hemospermia/etiology , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Semen , Ultrasonography , Young Adult
15.
Andrologia ; 53(1): e13827, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33112435

ABSTRACT

To investigate the semiquantitative methylation alterations of MLH1 and MSH2 and the possible association among methylation of MLH1 and MSH2, sperm DNA fragmentation and sperm chromatin condensation in idiopathic oligoasthenoteratozoospermic men. Seventy-five idiopathic infertile men and 52 fertile and/or normozoospermic men were included in the study. SDF was analysed using the TUNEL assay in semen samples of 100 men. Promoter methylation of MLH1 and MSH2 genes was assessed by semiquantitative methylight analysis in semen samples of 39 and 40 men respectively. Sperm chromatin condensation was evaluated using aniline blue staining in 114 men. MLH1 promoter methylation was positively correlated with the percentage of aniline blue positive spermatozoa (r = 0.401, p = 0.0188). On the other hand, MSH2 promoter methylation was negatively correlated with sperm concentration and total sperm count (r = -0.421, p = 0.0068 and r = 0.4408, p = 0.009 respectively). The percentage of aniline blue positive spermatozoa in the control group was significantly lower than in the OAT group (p < 0.0001) and negatively correlated with total sperm count (r = -0.683, p < 0.0001), progressive sperm motility (r = -0.628, p < 0.0001), total motility (r = -0.639, p < 0.0001) and normal morphology (r = -0.668, p < 0.0001). Promoter methylation profile of MLH1 and MSH2 genes may play role on sperm DNA packaging and conventional semen parameters respectively.


Subject(s)
Chromatin , Infertility, Male , Chromatin/genetics , DNA Fragmentation , Humans , Infertility, Male/genetics , Male , Methylation , MutL Protein Homolog 1/genetics , MutS Homolog 2 Protein/genetics , Sperm Motility , Spermatozoa
16.
Andrologia ; 53(2): e13925, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33355950

ABSTRACT

The aim of the study was to investigate whether the promoter methylation of XRCC1 and ERCC2 genes is associated with sperm DNA fragmentation and chromatin condensation in idiopathic oligoasthenoteratozoospermic men. This study involved 77 infertile men with idiopathic oligoasthenoteratozoospermia and 51 normozoospermic controls. The methylight method, TUNEL assay and aniline blue staining were used for the evaluation of XRCC1 and ERCC2 genes' methylation, SDF and sperm chromatin condensation, respectively. SDF (p = .004) and XRCC1 methylation (p = .0056) were found to be significantly higher in men with idiopathic OAT than in the controls, while mature spermatozoa frequency was higher in controls as compared to infertile men (p < .0001). No significant association was found between SDF and methylation of XRCC1 and ERCC2 genes (p = .9277 and p = .8257, respectively). However, compared to the cut-off point obtained by receiver operating characteristic analysis, a significant association was found between SDF and XRCC1 methylation, positive and negative methylation groups, generated according to the cut-off value for XRCC1. XRCC1 methylation was found to have a significant effect on chromatin condensation (p = .0017). No significant difference was detected among ERCC2 methylation, male infertility and SDF. In conclusion, XRCC1 methylation may have a role in sperm chromatin condensation and idiopathic OAT.


Subject(s)
Chromatin , DNA Fragmentation , Infertility, Male , Promoter Regions, Genetic , Chromatin/genetics , Chromatin/metabolism , DNA Methylation , Humans , Infertility, Male/genetics , Infertility, Male/metabolism , Male , Methylation , Spermatozoa/metabolism , X-ray Repair Cross Complementing Protein 1/genetics , Xeroderma Pigmentosum Group D Protein/genetics , Xeroderma Pigmentosum Group D Protein/metabolism
17.
Andrologia ; 53(2): e13942, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33372270

ABSTRACT

Errors of folate/homocysteine pathways which are critical for transferring methyl groups have been suggested to affect male fertility. We aimed to evaluate the methylation patterns of the promoter of methylenetetrahydrofolate reductase (MTHFR) gene in infertile males and to investigate the association between MTHFR promoter methylation and success of sperm retrieval. Thirty-five nonobstructive azoospermic and 46 severe oligozoospermic patients constituted the study group and were compared with 49 fertile and/or normozoospermic men. The methylation status was analysed by methylation-specific polymerase chain reaction. MTHFR promoter methylation was detected in infertile men with NOA and SO in the ratio of 48.6% and 58.7%, respectively. Methylation was also observed in 51% of controls. MTHFR promoter was methylated in 65% of men with viable spermatozoon during TESE. No association was found regarding to the profile of MTHFR promoter methylation between both NOA and SO patients and controls (p = .621). There was no relation between the methylation status of MTHFR promoter and low motility and poor morphology (p = .682 and p = .413, respectively). No association was found between MTHFR promoter methylation and presence of viable spermatozoa (p = .382). Our data indicate that the promoter methylation of MTHFR gene may not be associated with male infertility.


Subject(s)
DNA Methylation , Infertility, Male , Methylenetetrahydrofolate Reductase (NADPH2) , Promoter Regions, Genetic , Humans , Infertility, Male/genetics , Infertility, Male/metabolism , Male , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Spermatozoa/metabolism
18.
Andrology ; 9(1): 253-259, 2021 01.
Article in English | MEDLINE | ID: mdl-32960506

ABSTRACT

BACKGROUND: Although few studies have reported fertility outcomes, no study has reported risk factors that might predict sperm retrieval and pregnancy in azoospermic men with a history of cryptorchidism in a large series. OBJECTIVES: To investigate fertility outcomes and predictors for successful sperm retrieval and pregnancy in azoospermic men with a history of cryptorchidism who underwent microdissection testicular sperm extraction (mTESE). MATERIALS AND METHODS: This retrospective observational study included 327 azoospermic men with a history of cryptorchidism who underwent mTESE. Fertility outcomes including sperm retrieval, fertilization rate, number of transferred embryos, pregnancy, miscarriage, and live birth rates were recorded. RESULTS: Sperm retrieval was observed in 172 (52.6%) of the patients. The mean fertilization, pregnancy, and live birth rates were 55.2%±20.5, 53.5%, and 44.8%, respectively. The sperm retrieval rate was significantly higher at the orchidopexy age of ≤ 9.5 years (70.8%) than the orchidopexy age of > 9.5 years (42.1%) (P = .000). Patients with total testicular volume of ≥ 13.75 mL had significantly higher sperm retrieval rate (65.2%) than the patients with total testicular volume of < 13.75 mL (45.5%) (P = .001). Patients with total testosterone level of ≥ 300.5 ng/dL had significantly higher sperm retrieval rate (65.6%) than the patients with total testosterone level of < 300.5 ng/dL (40.3%) (P = .000). Patients with follicle-stimulating hormone (FSH) level of ≤ 17.25 mIU/ml had significantly higher sperm retrieval rate (72.3%) than the patients with FSH level of > 17.25 mIU/mL (44.4%) (P = .000). Younger male and female ages, and higher fertilization rates were the parameters that might predict pregnancy. CONCLUSIONS: Infertile azoospermic men with a history of cryptorchidism have high sperm retrieval rate with mTESE. Patients who had orchidopexy at the age of ≤ 9.5 years, and having total testicular volumes of ≥ 13.75 mL with total testosterone level of > 300.5 ng/dL and FSH level of ≤ 17.25 mIU/mL have higher success rate for sperm retrieval.


Subject(s)
Azoospermia , Birth Rate , Sperm Retrieval/statistics & numerical data , Adolescent , Adult , Cryptorchidism/surgery , Female , Humans , Male , Middle Aged , Orchiopexy , Pregnancy , Retrospective Studies , Young Adult
19.
Andrologia ; 53(1): e13840, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33108820

ABSTRACT

Prostate-specific membrane antigen (PSMA) is a transmembrane glycoprotein with glutamate carboxypeptidase activity. However, its precise function in the prostate, prostasomes and seminal plasma with regard to male fertility remains unknown. This study was conducted to investigate the seminal plasma PSMA levels in fertile men and patients with oligoasthenoteratozoospermia (OAT) and to analyse its association with sperm parameters. Twenty fertile men and twenty patients admitted at the urology clinic of our institution with the diagnosis of OAT were included in the study. Following semen analysis, seminal plasma was isolated from semen ejaculates. PSMA concentrations in the seminal plasma were determined by ELISA. The correlations between seminal PSMA concentrations and semen parameters were statistically analysed. Seminal plasma PSMA concentration was significantly lower in OAT patients compared to fertile controls (p < .01). In fertile men, PSMA concentration was significantly correlated with the sperm concentration (r = -.481, p < .05), whereas in the patient group no statistically significant correlation was found between the sperm parameters and seminal PSMA level. This is the first study in the literature to investigate PSMA levels in the seminal plasma from infertile men. Decreased levels of seminal plasma PSMA might suggest a role for compromised prostasome function in the pathogenesis of OAT syndrome.


Subject(s)
Infertility, Male , Semen , Humans , Male , Prostate , Semen Analysis , Sperm Count , Sperm Motility , Spermatozoa
20.
Andrologia ; 52(11): e13739, 2020 Dec.
Article in English | MEDLINE | ID: mdl-32882067

ABSTRACT

46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in a series of sex-determining region Y (SRY)-positive 46,XX TDSD cases. We present the clinical findings, hormone profiles and genetic test results of six patients with SRY-positive 46,XX TDSD and give the details and follow-up findings of our three of previously published patients. All patients presented common characteristics such as azoospermia, hypergonadotropic hypogonadism and an SRY gene translocated on the terminal part of the short arm of one of the X chromosomes. Mean ± standard deviation (SD) height of the patients was 164.78 ± 8.0 cm. Five patients had decreased secondary sexual characteristics, and three patients had gynaecomastia with varying degrees. Five of the seven patients revealed a translocation between protein kinase X (PRKX) and inverted protein kinase Y (PRKY) genes, and the remaining two patients showed a translocation between the pseudoautosomal region 1 (PAR1) of X chromosome and the differential region of Y chromosome. X chromosome inactivation (XCI) analysis results demonstrated random and skewed XCI in 5 cases and 1 case, respectively. In brief, we delineate the phenotypic spectrum of patients with SRY-positive 46,XX TDSD and the underlying mechanisms of Xp;Yp translocations.


Subject(s)
Genes, sry , Testicular Diseases , Genes, sry/genetics , Humans , Karyotyping , Male , Phenotype , Translocation, Genetic
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