Primary Infertility Patients Research Articles

Increased serum leptin levels are associated with metabolic syndrome and semen parameters in patients with infertility.

This study aims to ascertain the associations between serum leptin levels and metabolic syndrome and semen parameters in patients with infertility. A total of 200 patients who were diagnosed as primary infertility in our hospital were enrolled in this study, and they were divided into MetS group and non-MetS group. About 30 healthy men were enrolled as the control group. The general information, blood lipids, reproductive hormones and semen parameters were collected. We used the Student t test, the Chi-square test, the Kruskal-Wallis test, and the spearman correlation analysis to analyze their relationships. BMI, glucose, TG, follicle-stimulating hormone (FSH), and leptin were significantly higher in MetS infertile patients (P < .001; P < .005; P < .001; P < .001; and P < .001, respectively). While T and high-density lipoprotein (HDL) were significantly lower in MetS infertile patients (P < .01, and P < .001, respectively). Leptin was correlated with sperm progressive motility (R = -0.312, P < .01), and normal morphology (R = -0.458, P < .001). Moreover, sperm concentration was correlated with FSH (R = -0.268, P < .001) and inhibin B (R = 0.401, P < .001), and normal morphology was correlated with HDL (R = 0.233, P < .001) and TG (R = -0.182, P < .01). In primary infertile patients, sperm normal morphology were found to be depressed and related to MetS. Leptin was increased in patients diagnosed with MetS and associated with semen parameters.

P-571 Mutations in FOXO3 mutation cause human premature ovarian insufficiency

Abstract Study question Do variants in front fork transcription factor 3 (FOXO3) account for premature ovarian insufficiency (POI) in humans? Is there is a potential treatment for POI caused by FOXO3 mutations? Summary answer Heterozygous variants in FOXO3 cause human female infertility owing to POI by inducing oocyte apoptosis. What is known already Front fork transcription factor 3 (FOXO3) is a member of the forkhead box family of transcription factors. Previous study had reported that FOXO3 encodes an evolutionarily conserved primary regulator and an effective inhibitor of primordial follicle activation. The null mutants of Foxo3 or its ortholog in multiple organisms displayed POI owing to deficiencies in maintaining the ovarian reserve. However, whether FOXO3 variants can underline POI phenotype in humans were unclear, and the causal relationship has not yet been established with functional evidence. Study design, size, duration 107 primary infertility families with POI were recruited for pathogenic variants screening. The proband with and her parents were verified for FOXO3 variants. Participants/materials, setting, methods All the patients were diagnosed with POI were confirmed by clinical analyses. Exome sequencing and subsequent bioinformatic analyses were performed to screen for candidate pathogenic variants. The pathogenicity of identified variants was assessed and studied in vivo in mice carrying the equivalent mutations. Main results and the role of chance Novel heterozygous variant in FOXO3 was identified in the patient with POI. Mice modeling the Foxo3 variant identified in patients recapitulated the ovarian reserve defects of patients, confirming the pathogenicity of the identified variants. The mutation caused constitutive activation of FOXO3 lead to POI by inducing oocyte apoptosis, which will facilitate the genetic diagnosis of POI in patients and provide a potential therapeutic target for female fertility. Limitations, reasons for caution A limitation of the current study is the small sample size. More primary infertility patients with POI should be screened to enrich the pathogenetic mutations of FOXO3. Wider implications of the findings FOXO3 was detected as a novel gene underlie human POI, thus providing new targets for the molecular diagnosis and treatment. Trial registration number the National Natural Science Foundation of China (NSFC) (Grant number:82302083)

Associations between tobacco inhalation and semen parameters in men with primary and secondary infertility: a cross-sectional study.

To examine the impact of tobacco smoking on seminal parameters in men with both primary and secondary infertility. This cross-sectional study analyzed 1938 infertile men from China who were categorized as nonsmokers (n=1,067) and smokers (n=871), with the latter group further divided into moderate smokers (1-10 cigarettes per day) (n=568) and heavy smokers (>10 cigarettes per day) (n=303). We assessed semen volume, concentration, total sperm count, progressive motility, and normal morphology following World Health Organization (WHO 2010) guidelines. A logistic regression model was used to analyze the relationships between smoking and seminal parameters while also controlling for lifestyle factors. The analysis demonstrated a statistically significant correlation between smoking and adverse seminal parameters in both primary and secondary infertility patients. Specifically, primary infertile men who smoked had a lower semen concentration, with heavy smokers showing a median sperm concentration of 59.2×10^6/ml compared to 68.6×10^6/ml in nonsmokers (P=0.01). The secondary infertile men who smoked exhibited reduced forward sperm motility, with heavy smokers demonstrating a median progressive motility of 44.7%, which was significantly lower than the 48.1% observed in nonsmokers (P=0.04). Smoking is significantly associated with detrimental effects on seminal parameters in infertile men, thus highlighting the need for cessation programs as part of fertility treatment protocols. Encouraging smoking cessation could substantially improve semen quality and fertility outcomes in this population.

Identification of novel homozygous missense and deletion mutations manifesting oligospermia infertility in Kashmiri population.

Human male infertility has a lot of known molecular components that have an accurate diagnosis, such as Y chromosome deletion and monogenic causes. Only 4% of all infertile males are diagnosed with genetic causes, while 60-70% of infertile men remain without an accurate diagnosis and are classified as unexplained. Oligospermia is a major cause of human male infertility. Its etiology and pathogenesis are linked to genetic abnormalities. The majority of genetic causes related to human male infertility remain unclear. Generally, we found a significant association between the specific type of disease and gender (p= 0.003), and the regression value (R2 ) for this association was 0.75. Association of the type of disease with body mass index was not significant (p= 0.34). There was no statistically significant difference (p= 0.40) among disease types with patients occupations. All explored mutations are listed for primary and secondary infertility in relation to the oligospermia condition. p.Arg286X is the outcome of a mismatch mutation in which the nucleotide change resulted in the substitution of Arg (arginine) amino acid with X (any amino acid) at position 286 in the Hyal3 gene of primary infertile patients having oligospermia. In primary infertile patients with the p.Arg286X mutation, a frameshift deletion mutation was also found just after the 25 nucleotide sequences of the Hyal3 genes of the second mutated exon. This deletion mutation was only detected in patients with primary infertility and was not found in people with secondary infertility or healthy controls. The other mutations in secondary infertile patients with oligospermia were: p.Lys168Ser, replacement of lysine (Lys) with serine (Ser) at position 168; p.Lys168The, replacement of lysine (Lys) with threonine (The) at position 168; p.His113X, substitution of histidine (His) with an unknown amino acid (X) at position 113; p.Pro162X, substitution of proline (Pro) with an unknown amino acid (X) at position 162; and p.Phe157X, phenylalanine (Phe) substitution with an unknown amino acid (X) at position 157. This study clarifies the site of novel mismatch and frameshift deletion mutations in the Hyal3 gene in primary infertile oligospermia patients.

Comparing the pregnancy outcomes of Re‑ICSI and ICSI embryos in fresh ET and FET cycles.

Early rescue intracytoplasmic sperm injection (Re-ICSI) can prevent total fertilization failure (TFF) during conventional in vitro fertilization (IVF). However, the implantation rate of Re-ICSI embryos is lower than that of direct ICSI during fresh embryo transfer (ET). The aim of the present study was to investigate the effect of frozen ET (FET) after Re-ICSI. In the present retrospective study, primary infertility patients that underwent the first Re-ICSI and ICSI treatment, were studied. The clinical pregnancy rate, implantation rate, ectopic pregnancy, abortion rate and live birth rate were analyzed between the Re-ICSI and ICSI groups in fresh ET and FET cycles. The average age of patients between Re-ICSI and ICSI groups in fresh ET and FET cycles was (29.0±3.2 vs. 29.1±3.1, and 29.1±3.3 vs. 28.9±3.0), respectively (P>0.05). Compared with ICSI embryos, the clinical pregnancy, implantation and live birth rates of Re-ICSI embryos were lower in fresh ET cycles. By contrast, there were no significant differences in the pregnancy, implantation and live birth rates between the Re-ICSI and ICSI embryos during the FET cycles. Re-ICSI coupled with FET may overcome the impaired outcomes in fresh ET.

Evaluation and perspectives on hysterosalpingography (HSG) procedure in infertility: a comprehensive study.

Infertility continues to be a common medical problem with significant societal repercussions and psychological and economic effects on families' lives. Hysterosalpingography (HSG) is the preferred method in clinical practice for evaluating the uterine cavity and tubal patency. Our study aims to present a comprehensive perspective on the importance of the HSG procedure in the evaluation of infertile patients, starting with the recommendation of the HSG procedure to the patient, the application of the procedure, and the evaluation of the patient's post-procedure process. This is a prospective evaluation of 323 women who underwent HSG at Kafkas University between 2021-2022. The type and duration of infertility in patients, the source from which the patient received the recommendation for HSG, visual pain score for evaluating pain during the HSG procedure, HSG results, patients' perspectives on the procedure's contribution to the treatment processes, their immediate post-procedure pain, and their pregnancy status within 6 months after the procedure were evaluated. 72.1% of patients had primary, and 27.8% had secondary infertility. 82% of HSG results were reported as normal. Among primary infertility, uterine pathologies were detected in 62.5%. In secondary infertile patients, tubal pathology was detected in 88.4%. There is a statistically significant difference between the infertility types of patients with normal HSG results and those without (p=0.001). There was also a difference between the results of HSG and follow-up types (p<0.001). A statistical difference was also found between the HSG result and the patients' conception status within 6 months after the procedure (p<0.001). When it comes to the cost of the HSG procedure for infertility, as well as potential pain, radiation exposure, and rare allergic reactions to the contrast material, it is important to choose the appropriate circumstances for this procedure. In order to avoid unnecessary interventional procedures, it would be beneficial to discuss the recommendation of HSG for primary infertile patients under 28.5 years of age. Further research is required in this regard. Since tubal factors are most common among secondary infertile women, this group of patients is more likely to benefit from HSG in the evaluation.

The role of saline infusion sonohysterography in the evaluation of infertility

Aims: The study aimed to evaluate possible intrauterine pathologies that may not be visible in basal transvaginal ultrasonography in infertile patients using saline infusion sonohysterography.&#x0D; Methods: Between January 2019 and January 2020, 110 patients who presented to the Ankara University Faculty of Medicine, Obstetrics and Gynecology Infertility Polyclinic were enrolled in the study. Saline infusion sonohysterography was performed on primary and secondary infertile patients who were not diagnosed with endometrial pathology via ultrasonography.&#x0D; Results: Pathological findings were detected in 11 out of 110 patients (10.6%) during saline infusion sonohysterography, including polyps, myomas, and adhesions. These patients were referred to hysteroscopy by their practitioner. After the procedure, pathological findings were detected in 54.5% of cases by hysteroscopy. According to these data, the sensitivity of saline infusion sonohysterography in detecting intracavitary pathologies was 60%, specificity was 80.7%, positive predictive value was 54.5%, negative predictive value was 84%, and reliability was 75%.&#x0D; Conclusion: Saline infusion sonohysterography can detect endometrial pathologies not identified by TV USG, suggesting its cost-effective addition to routine evaluations for infertile patients and potential endometrial pathologies.

Hysteroscopic alterations in women with infertility or recurrent spontaneous abortion in case of normal transvaginal ultrasonography

Introduction: Whether hysteroscopy should routinely be conducted before embryo transfer remains uncertain especially when transvaginal ultrasonography (TVS) is normal. We aimed to investigate the hysteroscopic findings for patients with infertility or recurrent spontaneous abortion and with normal TVS. Methods: Patients who underwent TVS and hysteroscopy in the hospital from January 2014 to May 2019 were enrolled. Propensity score matching (1:1) was carried out for TVS positive and negative result groups. The positive results of hysteroscopy in the primary and secondary infertility patients were further compared. The prevalence rates of various diseases in different age groups were summarized and analyzed. Results: A total of 1532 individuals were enrolled in the study group and 19,118 cases in the control group. A total of 1495 cases with TVS positive results were matched using propensity score matching (1:1). The prevalence of uterine diseases in the TVS positive group was significantly higher than that in the TVS negative group (P&lt;0.001).The prevalence of endometrial polyps and endometrial hyperplasia in patients with primary infertility was significantly higher than that with secondary infertility (P&lt;0.001). The diagnostic sensitivity of TVS for major uterine cavity diseases, confirmed by hysteroscopy was relatively low (12.7%; 11.9%–13.6%). Conclusions: Hysteroscopy can detect a considerable number of uterine lesions even after normal TVS results. The sensitivity of TVS for the diagnosis of intrauterine lesions is relatively low. We suggest that hysteroscopy be recommended for patients with infertility or recurrent spontaneous abortion.

O-304 Whole-exome sequencing in women with reproductive failure is a potentially useful diagnostic test in clinical practice

Abstract Study question Could whole-exome sequencing (WES) be useful in clinical practice for primary infertile female involving oocyte or embryo defects and unexplained recurrent miscarriage (RM) patients? Summary answer Identifying key genes involved in oocyte and embryo development helps explain approximately 17% cases of reproductive failure. WES results will help optimize clinical therapeutic treatment. What is known already Dozens of genes have been reported to be the genetic causes of human infertility. Variants in these genes have specific effects on certain processes of human early reproduction and result in a spectrum of phenotypes, such as oocyte maturation arrest, fertilization defects, cleavage failure, early embryonic lethality, and recurrent miscarriage. Study design, size, duration This retrospective cohort study was conducted from July 2020 to August 2022. A total of 129 affected females were enrolled. Most of them were primary infertile women who suffered repeated failure of in vitro fertilization (≥2 cycles) due to abnormal development of oocytes or embryos (PI group, n = 125). Our cohort also comprised a small number of unexplained RM subjects without offspring (RM group, n = 4). All patients and their spouses had normal karyotype. Participants/materials, setting, methods The peripheral blood samples from all the participants and all of their available family members were obtained for DNA extraction. Genomic DNA samples from the probands were subjected to WES to identify candidate variants. Subsequently, the variants were validated by Sanger sequencing or qPCR. Familial co-segregation analyses were then carried out within the family members. The relationship between phenotype and genotype by clinical tests and the clinical records of the patients was studied. Main results and the role of chance Firstly, variants that are potentially relevant to the phenotypes of female infertility were identified in 17.05% of cases (n = 22), including TUBB8 in 14 cases, PATL2 in 2 cases, ZP2, ZP3, PANX1, TLE6, NLRP2 and NLRP7 in 1 case for each. A breakdown by phenotype revealed that we identified variants in 16.00% (n = 20) of PI group and 50% (n = 2) of RM group. Secondly, 16 TUBB8 variants were identified in 14 cases, of which 8 were novel, 3 were previously reported, and 5 were novel amino acid change occurring at the same position as another previously reported change. We found 3 TUBB8 variants (p.C211R, p.T232I, p.A342T) in 3 embryonic arrest families and 1 TUBB8 mutation (p.A102V) in a RM family, which were maternally inherited. Thirdly, 75 patients in PI group without phenotypic variant underwent ≥1 cycles of ovulation and/or frozen embryo transfer after WES, and 49.33% had achieved clinical pregnancy (n = 37). Limitations, reasons for caution The genomic DNA of parents were not available in all these 22 families, so we cannot determine whether the variant is de novo or inherited in some cases. Additionally, further functional studies should be performed to prove that these novel mutations affect protein function. Wider implications of the findings The present study expands the kinds of variants and phenotypic spectrum of gene mutations with regard to female reproductive failure. Genetic tests for causative genes involved in oocyte and embryo defects were recommended for primary infertile patients who suffered from these conditions and for unexplained RM patients. Trial registration number not applicable

The effect of impaired glucose metabolism on IVF-ET pregnancy outcome with endometrial hyperplasia and early-stage endometrial cancer

ObjectiveImpaired glucose metabolism, including insulin resistance, diabetes, and obesity, is a high-risk factor for the development of endometrial cancer (EC). Most previous studies evaluated the safety and effectiveness of fertility preservation (FP) for endometrial hyperplasia (EH) and EC patients were from the perspective of oncology or case reports. The study aims to evaluate the effect of glucose metabolic status on clinical pregnancy outcome of in vitro fertilization and embryo transfer (IVF-ET) in infertile patients with endometrial hyperplasia and early-stage endometrial cancer. MethodsThis retrospectively analysis included the data from patients who underwent IVF-ET after fertility preservation (FP) with endometrial hyperplasia and early-stage endometrial carcinoma, and primary infertile patients with normal endometrium (NE) but the fallopian tubal factors or pelvic adhesions who underwent IVF-ET during the same period as control group. All the patients were further divided into the following four subgroups: A: FP+ impaired glucose metabolism (IGM) (N = 20); B: FP+ normal glucose tolerance (NGT) (N = 29); C: NE+ IGM (N = 130); and D: NE+ NGT (N = 98). The main research outcome measure was the live birth rate (LBR) per embryo transfer (ET) cycle. Student's t-test or analysis of variance (ANOVA) was used for intergroup comparisons. The least significant difference (LSD) test was used for pairwise comparison between multiple groups. ResultsThe differences in anti-Mullerian hormones (AMH) and body mass index (BMI) between the four groups were significant. As BMI increased, the total dose of gonadotropin (Gn) during the controlled ovarian stimulation in the IGM group was significantly higher than that in the NGT group. The LBR was 16.7%, 26.3%, 41.6%, and 45.3% in the four subgroups (p = 0.033), respectively. By multivariate Logistic analysis, it was found that in FP group, IGM (OR = 1.501, 95% CI: 1.045–2.154, p = 0.028) was an independent risk factor for IVF-ET. ConclusionIGM was negatively affected by the LBR after endometrial complete response (CR) from early-stage endometrial cancer and endometrial hyperplasia. It was essential for the early detection and control of insulin resistance with metformin.

MP43-17 NORMOSPERMIA IN PRIMARY INFERTILE PATIENTS WITH VARICOCELE: WHAT ARE WE MISSING?

You have accessJournal of UrologyCME1 Apr 2023MP43-17 NORMOSPERMIA IN PRIMARY INFERTILE PATIENTS WITH VARICOCELE: WHAT ARE WE MISSING? Giuseppe Fallara, Paolo Capogrosso, Edoardo Pozzi, Federico Belladelli, Simone Cilio, Christian Corsini, Francesco Lanzaro, Alessandro Bertini, Massimiliano Raffo, Fausto Negri, Ludovica Cella, Margherita Fantin, Luigi Candela, Luca Boeri, Alessia d'Arma, Luca Pagliardini, Asif Muneer, Francesco Montorsi, and Andrea Salonia Giuseppe FallaraGiuseppe Fallara More articles by this author , Paolo CapogrossoPaolo Capogrosso More articles by this author , Edoardo PozziEdoardo Pozzi More articles by this author , Federico BelladelliFederico Belladelli More articles by this author , Simone CilioSimone Cilio More articles by this author , Christian CorsiniChristian Corsini More articles by this author , Francesco LanzaroFrancesco Lanzaro More articles by this author , Alessandro BertiniAlessandro Bertini More articles by this author , Massimiliano RaffoMassimiliano Raffo More articles by this author , Fausto NegriFausto Negri More articles by this author , Ludovica CellaLudovica Cella More articles by this author , Margherita FantinMargherita Fantin More articles by this author , Luigi CandelaLuigi Candela More articles by this author , Luca BoeriLuca Boeri More articles by this author , Alessia d'ArmaAlessia d'Arma More articles by this author , Luca PagliardiniLuca Pagliardini More articles by this author , Asif MuneerAsif Muneer More articles by this author , Francesco MontorsiFrancesco Montorsi More articles by this author , and Andrea SaloniaAndrea Salonia More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003289.17AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: The indication to treat varicocele remains challenging in male factor infertility (MFI) patients. The presence of semen abnormalities and the absence of further possible causes of MFI usually guide the indication to treat a varicocele. Some markers of semen quality, such as the sperm DNA fragmentation index (SDF), might play a role in this setting. We aimed to assess the proportion of patients with pathological SDF in a cohort of white-European primary infertile men with varicocele. METHODS: Complete clinical and sociodemographic data, including semen analysis and serum hormones, were retrospectively collected from 1021 patients seeking medical help for primary infertility and concomitant varicocele without evidence of any other cause for the infertility. Infertility and semen analyses were defined according to the WHO 2010. SDF was considered as pathological for values >30%, according to SCSA. Clinical grades of varicocele were classified according to WHO recommendations. Hence, patients were stratified in those with/without concomitant semen abnormalities (any). Descriptive statistic was used for assessing differences in baseline characteristics. Multivariable regression analysis evaluated the association between the severity of varicocele and SDF. RESULTS: Of 1021 men, 119 (11.6%) did not present any semen abnormality, while 902 (88.4%) had at least one semen abnormality, of which 539 (59.8%) had oligozoospermia, 39 (4.3%) azoospermia, 670 (74.3%) asthenozoospermia and 670 (74.3%) teratozoospermia. There was no difference in median age at presentation [23.9 years (22.8-25.8) for those without semen abnormalities and 24.6 years (22.9-26.6) for those with semen abnormalities (any)], number of comorbidities (CCI≥2 in 44 [37.0%] and 272 [30.2%] patients, respectively) and BMI [23.9 (22.7-25.8) and 24.6 (22.8-26.6) kg/m2, respectively]. SDF was 23.7 (13.4-34.56) vs. 33.3 (21.7-50.0) (p<0.001) for those without and with semen abnormalities, respectively. Interestingly there were 68 patients (57.1%) with altered SDF among those with non-altered seminal analysis vs. 377 patients (41.8%) among those with altered seminal analysis (p<0.002). At multivariable analysis altered SDF was not associated with higher varicocele grades. CONCLUSIONS: Almost one out of two patients with varicoceles, no other known causes of infertility and no macroscopic semen abnormalities has high SDF. SDF is not associated with the grade of varicoceles but might per se still represent and indication for treatment. Source of Funding: None © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e608 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Giuseppe Fallara More articles by this author Paolo Capogrosso More articles by this author Edoardo Pozzi More articles by this author Federico Belladelli More articles by this author Simone Cilio More articles by this author Christian Corsini More articles by this author Francesco Lanzaro More articles by this author Alessandro Bertini More articles by this author Massimiliano Raffo More articles by this author Fausto Negri More articles by this author Ludovica Cella More articles by this author Margherita Fantin More articles by this author Luigi Candela More articles by this author Luca Boeri More articles by this author Alessia d'Arma More articles by this author Luca Pagliardini More articles by this author Asif Muneer More articles by this author Francesco Montorsi More articles by this author Andrea Salonia More articles by this author Expand All Advertisement PDF downloadLoading ...

Normospermia in primary infertile patients with varicocele: What are we missing?

Normospermia in primary infertile patients with varicocele: What are we missing?

Primer infertil erkeklerdeki Y-kromozom mikrodelesyon sıklığı

OBJECTIVES: There are SRY (sex-determining region Y) region, which plays a role in testicular development, and genes related to spermatogenesis on the Y chromosome. Its long arm contains the azoospermia factor (AZF) region (AZFa, AZFb, and AZFc subregions). Microdeletions in this region are responsible for azoospermia and oligospermia and cause male infertility. The aim of this study was to analyze the incidence of microdeletion in the AZF region of the Y chromosome in male patients with primary infertility with azoospermia and oligospermia. MATERIAL and METHODS: A total of 206 male patients were analyzed between December 2020 and December 2022. The diagnosis of azoospermia and oligospermia was made based on semen analysis. Patients with normal karyotype were included in the study. For the definitive diagnosis of microdeletions in the AZF region, 20 different sequence tagged sites (STS) were used, including the recommendation of the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN). Each region was amplified by polymerase chain reaction (PCR) method and analyzed by fragment method in ABI 3500 DNA Sequence instrument. RESULTS: Microdeletion was detected in the AZF region of the Y chromosome in 17 of 206 patients (8%, 3) with normal karyotype. With the study, we identified the deletions of each subregion of AZF in our population. The presence of microdeletions in the AZFc region was most common. b2/b4 complete AZF/c microdeletions were higher than the g/gr partial AZF/c deletion. CONCLUSION: The study confirmed that the incidence of microdeletion of AZF subregions in primary infertile male patients was 8%,3 and was prognostically significant. The frequency of Y chromosome microdeletion was found to be consistent with the literature. Keywords: AZF region, azoospermia, oligospermia, primary male infertility, Y-chromosome microdeletion

Comparison of letrozole and clomiphene citrate efficacy in terms of ovulation induction and pregnancy rate.

Objective: To compare the efficacy of Letrozole and clomiphene citrate in Patients of Anovulation polycystic ovarian syndrome with Infertility. Study Design: Randomized Controlled Trial Setting: Department of Obstetrics and Gynecology Independent Medical College Faisalabad. Period: 30-09-2019 to 29-6-2020. Material &amp; Methods: This study included 100 patients with 50 patients in each group. Group A received 2.5 to 5mg letrozole in each cycle from day 3 to 7. Group B received clomiphene citrate 50 to 100 mg incremental dose depending on ovarian response. Both Drugs were given for consecutive 3 to 6 cycles to see response. Main outcome Measure included optimal follicle size (&gt; 18mm), endometrial thickness, and pregnancy rate. Epidemiological data and efficacy outcome measures were recorded on a Performa. Statistical analysis was done using SPSS version 13. Chi-square test applied and p-value &lt;o.o5 was considered significant. Both group included primary infertility patients. Results: The mean age of patients was 28.03+ 3.02 years. Mean age of group A patients was 29.04+3.44 and 28.47+3.90 group B patients. Mono ovulation in group A patients (88.9%) and 27 in group b patients (60.0%). The mean endometrial thickness was 9.6mm + 1.6 in letrozole group and 6.9mm + 1.2 in clomiphene citrate group A. In group A 18% got pregnant from Letrozole group and 1.1% from the group B. Conclusion: Efficacy was significantly higher in group A Patients received letrozole as compared to patients echo received clomiphene citrate. The effects of Letrozole showed better outcome in terms of Ovulation Induction Endometrial Thickness and Pregnancy rate.

Histerosalpingografide Kullanılan İyotlu Kontrast Maddenin Vücut Sıcaklığında ya da Oda Sıcaklığında Uygulanmasının Vizüel Analog Skala Skorlarına Etkisi

Aim: To compare pain scores of infertile patients during and after hysterosalpingography (HSG) procedure using visual analoge scale (VAS) between cold and warm contrast medium and to investigate whether using warm contrast can alter spontaneous pregnancy rate.&#x0D; Materials and Methods: Prospective randomized study between March-September 2017. Primary infertile patients undergoing HSG procedure. Patients’ age, body mass index (BMI), history of previous surgery, duration of infertility and pain levels during the most painful menstrual period were recorded. The pain severity was questioned during and at the 30th minute after the procedure using VAS. While patients who underwent HSG using a contrast medium at body temperature 37 °C were defined as warm group(n:55), patients who underwent HSG using a contrast medium at room temperature 23 °C were defined as cold group (n:55). &#x0D; Results: There were no significant differences between the groups in terms of age, BMI, duration of infertility, previous surgery and VAS during menstruation. The mean duration of HSG of warm group patients was significantly lower(p=0.001). Warm group patients’ mean VAS score during and 30 minutes after HSG were significantly lower than in the control group ( 5.3±4.2 vs 7.5±2.0), (1.1±0.9 vs 2.4±1.4), respectively. While severe pain percentage during HSG in warm group was 25.5%, it was 66.7% in the control group. In logistic regression analysis, warm and cold groups were only found as significant related factors for severe pain felt during procedure (p

Value of Early Laparoscopic Exploration for Primary Infertile Patients with Patent Fallopian Tubes Complicated with Pelvic Effusion.

BACKGROUND Endometriosis is a progressive disease, and early detection and early treatment are particularly important. The purpose of this study was to investigate the effect of the timing of laparoscopy on the spontaneous pregnancy rate of primary infertile patients complicated with pelvic effusion within 6 months after surgery. MATERIAL AND METHODS We enrolled 330 primary infertile patients with pelvic effusion and bilateral patent fallopian tubes. They were divided into 3 groups based on retrospective analysis of clinical data. Study Group 1 underwent laparoscopy 1 month after hysterosalpingography (HSG), Study Group 2 received laparoscopy after trying to conceive for 3 months, and the Control Group did not undergo laparoscopy. According to the specific conditions during laparoscopy, repair and plastic surgery of fallopian tube, electrocautery of endometriosis and uterine suspension were performed. The main observation indicators were proportions of retrograde menstruation, peritoneal endometriosis, and tubal adhesions in laparoscopy groups, and spontaneous pregnancy rates within 6 months. RESULTS The proportions of retrograde menstruation were 92.2% and 93.1% in Study Group 1 and Study Group 2, respectively, with no statistical significance. The proportions of peritoneal endometriosis were 51.0% and 64.7%, with a statistically significant difference. The proportions of tubal adhesions were 31.4% and 36.2%, with no statistical significance. The pregnancy rates within 6 months were 73.9%, 52.6%, and 13.1%, with a statistically significant difference for pairwise comparisons. CONCLUSIONS The pregnancy rate of primary infertile patients with patent fallopian tubes complicated with pelvic effusion can be significantly improved through early laparoscopic surgery (exploration and treatment).

High serum alpha-fetoprotein levels in primary infertile men.

Alfa-fetoprotein (AFP) is a serum glycoprotein highly produced during fetal development. While AFP synthesis drops dramatically after birth, AFP production only persists or returns under specific pathological condition. We sought to investigate the rate of and the potential meaning of high AFP serum levels in men seeking first medical attention for couple's primary infertility. Socio-demographic and clinical data from 1803 non-Finnish, White-European primary infertile men were retrospectively analysed. AFP was routinely measured in each patient (high AFP was defined as>7ng/ml). Men with history of liver diseases, testicular cancer, or other known causes of increased AFP levels were excluded from the final analysis. Semen analyses were based on the 2010 World Health Organization reference criteria. Descriptive statistics and logistic regression models tested the association between serum AFP and clinical variables. Possible nonlinear relationships were graphically explored with locally estimated scatterplot smoothing method. Overall, high serum AFP level was found in 29 (1.7%) patients. Normal versus high AFP levels patients were comparable in terms of body mass index (BMI), Charlson Comorbidity Index, waist circumference, smoking habits, history of cryptorchidism, testicular volume, and serum hormones (i.e., follicle-stimulating hormone, luteinizing hormone, and total testosterone). Conversely, men with higher AFP levels were older (p=0.02), had lower sperm concentration (p=0.003), and were more frequently oligozoospermic and azoospermic (all p≤0.03). At multivariate analysis, high AFP levels were independently associated with oligozoospermia (OR 3.79; p=0.033) and azoospermia (OR 3.29; p=0.006). Likewise, if AFP levels increase, patients were found to be older, with higher BMI and to have more comorbidities (all p<0.05). Unexplained high AFP levels account for almost 2% of cases in primary infertile patients without a previous history of associated disorders. Higher serum AFP levels are linked with aberrant sperm counts, older age, obesity, and a greater amount of comorbid conditions. Despite the need for additional validation, these data suggest that serum AFP measurement might have a multifaceted role over the diagnostic work-up of males presenting for couple's infertility.

Chlamydia Trachomatis–A Cause of Infertility at Tertiary Care Hospital, Pakistan

Objective: To determine the association of Chlamydial infection with infertility in patients reporting to tertiary care set up for evaluation.&#x0D; Study Design: Cross-sectional study.&#x0D; Place and Duration of Study: Armed Forces Institute of Pathology, from Jun 2015 to Jun 2016.&#x0D; Methodology: A total of 100 women with primary or secondary infertility were included. Endo cervical swabs were taken. PAP smear was performed. One drop of anti-chlamydial monoclonal antibody was added to each slide, incubated at 37oC for 10 minutes, and examined for Chlamydia trachomatis under the fluorescent microscope.&#x0D; Results: The mean age was 29.878±3.48 years. 89.0% of the patients had primary infertility, and 11.0% had secondary infertility. The mean age of primary infertile patients was 29.98 ± 3.51 years, while the same was 29.00 ± 3.28 years among patients with secondary infertility. Chlamydial infection was detected positive by direct immunofluorescence (Elementary Bodies) in 6 patients with mean age of 27.17 ± 1.72 years and positive in 13 patients by polymerase chain reaction with mean age of 28.38 ± 1.85 years, having a significant p-value (&lt;0.05).&#x0D; Conclusion: There was an association between Chlamydia trachomatis infection and female infertility.

A Novel Homozygous Nonsense Mutation in ZP1 Causes Female Infertility due to Empty Follicle Syndrome.

ZP1 is a critical glycoprotein in the formation of the zona pellucida. It plays an indispensable role in the maturation of oocytes. To identify the causative gene of empty follicle syndrome (EFS) in a patient from a consanguineous family, whole-exome sequencing was performed in the proband. We identified a novel homozygous nonsense mutation c.1260C > G (p. Tyr420X) in the ZP1 gene from two primary infertile patients. Western blot showed that Y420X mutation in ZP1 gene produced a truncated protein. However, the mutation had no significant effect on subcellular localization of the mutant protein. Our findings confirmed the important role of the ZP1 gene in human female reproduction, enriched the mutation spectrums of ZP1 gene, and expanded its applications in the clinical and molecular diagnoses of EFS.

Is hysteroscopy justified in infertile women?

This retrospective study aimed to assess the value of Hysteroscopy (HS) in studying the rate and types of abnormalities found in uterine cavity during evaluation of infertile patients in comparison to hysterosalpingography (HSG). Subject and Methods: this study included 149 infertile women underwent HS for primary &amp; secondary infertility, recurrent abortions and failed IVF cycles at Department of Obstetrics &amp; Gynecology at Zliten teaching Hospital, Misurata center for Diagnosis and treatment of Infertility . Preoperative assessment: history, pelvis evaluation with necessary investigations including ultrasound and HSG. Data were analysed in terms of type &amp; rate of abnormality found, their relation with age and type of infertility including correlation between HSG and HS findings. Results: Abnormalities of uterine cavity were detected in more than half of the patients studied (59%), significantly more at ages of 31-42 years (58.3%) when compared with ages of 20-30 years (34.6%),(P&lt;0.05). Endometrial polyps (20.4%), septate and subseptate uterus (17.2%). Submucous myomas, cornual polyps and intrauterine adhesions were seen at same rate (6%),. Most of the pathologies were seen in primary infertility patients except the intrauterine adhesions which exclusively found in those with secondary infertility.