International Journal of Infertility and Fetal Medicine最新文献

{"title":"Phenotypic Features and Inheritance Pattern of Emanuel Syndrome: An Indian Perspective","authors":"B. Koshy, V. Kamath, V. Srivastava, M. Chacko, S. Yuvarani, S. Oommen","doi":"10.5005/jp-journals-10016-1228","DOIUrl":"https://doi.org/10.5005/jp-journals-10016-1228","url":null,"abstract":"Aim and objective: To study the phenotypic features and inheritance patterns in children diagnosed with Emanuel syndrome (ES). Materials and methods: All children who underwent cytogenetic analysis at the Christian Medical College, Vellore and whose karyotypes showed the supernumerary chromosome 22 derived from an unbalanced translocation (11;22)(q23;q11.2) were included. Karyotypes of family members were retrieved from hospital records. Metaphases were obtained from phytohemagglutinin-stimulated peripheral blood cultured using standard protocols. At least 20 Giemsa-banded metaphases were analyzed and reported in accordance with the International System for Human Cytogenomic Nomenclature. The clinical features and imaging findings were retrieved from our medical records. The karyotype findings of parents and family history including the obstetric history of all mothers were recorded. Results: There were eight children, three girls and five boys, all of whom were from unrelated families. The age at presentation ranged from 8 months to 8 years of age. Three families presented with significant family history in the form of previous sibling deaths, recurrent abortions in the mother, and maternal siblings’ death. All eight children presented with global developmental delay. Preauricular sinus was found in six children (6/8,75%), while microcephaly and hypotonia in five each (5/8,62.5%). More than half of our children presented with structural cardiac and brain malformations. In three children, the der(22) was found to have originated from a maternal source of the t(11;22). All three mothers who harbored this translocation were phenotypically normal. Conclusion: The characteristic clinical features of ES found in our study included preauricular sinus, microcephaly, hypotonia, cardiac defects, and structural brain malformations. The maternal source of the t(11;22) was the commonest mode of inheritance among children diagnosed with ES. Clinical significance: Emanuel syndrome is a rare syndrome and it is extremely important to identify the phenotypic features of this clinical entity since early intervention can aid in appropriate counselling and offering prenatal testing. The majority of children diagnosed with ES were found to have inherited this genetic defect due to a translocation (11;22) running in the family. Hence, a clear understanding of the reproductive outcomes of the t(11;22) is of vital importance in counseling the family members and offering prenatal testing.","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42379305","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Study of Attitude, Awareness, and Knowledge of Vasectomy among Married Men in Urban Slums of Chennai, Tamil Nadu, India","authors":"S. Chinnaiyan, B. Babu","doi":"10.5005/jp-journals-10016-1226","DOIUrl":"https://doi.org/10.5005/jp-journals-10016-1226","url":null,"abstract":"Ab s t r Ac t Background: Sterilization is a permanent birth control method, with nearly twice as many couples, are choosing female sterilization over male sterilization. Vasectomy is a safe, cheaper, less complicated, and simple procedure in permanent sterilization methods than tubectomy. Aim and objective: To assess attitude, awareness, and knowledge of vasectomy among married men in urban slums of Chennai, Tamil Nadu. Materials and methods: It is a descriptive cross-sectional study carried among married men in the urban slums of Chennai age 21–49. Simple random sampling is used to select the respondents. Descriptive analysis was done using appropriate R studio software. Results: Among our 132 respondents, most of them are from 20 to 29 (40.90%). About 84% of the participants heard about vasectomy. Awareness of contraceptive methods is mostly through television (75%) and by their family and friends (72%). Our study discovered a gap in the knowledge and attitudes toward vasectomy, which the study revealed that respondents had moderate knowledge but had a negative attitude toward vasectomy. Conclusion: Many men believe that avoiding pregnancy is exclusively the woman’s responsibility. Men and women differed in their experience of sterilization. Family and physicians have an important role in ensuring that women know contraception options before the sterilization procedure. Adequate health education campaigns and regular counseling can bring out positive attitudes among people on vasectomy in the future.","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42493620","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trifactorial Influence—Antisperm Antibody, Anti-Chlamydia Antibodies, and Thyroid Levels in Infertility","authors":"Sopia A Rajamanickam, Joseph Pi Danislas, K. Mohanram, Shanthi Dinakaran, A. J. Henry","doi":"10.5005/jp-journals-10016-1223","DOIUrl":"https://doi.org/10.5005/jp-journals-10016-1223","url":null,"abstract":"Ab s t r Ac t Aim and objective: The present study determines the incidence of anti-Chlamydia antibodies (ACA), antisperm antibody (ASA), and thyroid levels in serum of infertility patients and statistically determines the significance of all three study parameters. Materials and methods: A cross-sectional study was conducted on volunteers of 190 patients both male and female reporting to the Infertility Clinic of hospital and 178 patients including pregnant women patients were used as control. Serum from patients was collected and analyzed for the presence of anti-Chlamydia antibodies, ASA, serum T3, T4, and thyroid-stimulating hormone (TSH) levels by enzyme-linked immunosorbent assay (ELISA). Results: Infertility patients representing 12.6% of the study population tested positive for anti-Chlamydia antibodies. 21.6% of 190 patients had high ASA levels and these levels were found to be statistically significant p < 0.001 when compared with control. Elevated thyroid levels of the study population observed as increased T3 in 26 patients and T4 in 18 patients with 16 patients having increased TSH and the increased levels of thyroid in infertility patients compared with control is statistically significant p value <0.01. Correlation between all three study parameters is statistically significant [0.01 level (two-tailed)]. Conclusion: Significantly higher levels of anti-Chlamydia antibodies and ASA are found associated in infertile patients as is elevated T3, T4, and TSH. All three parameters together can cause infertility showing the multidimensional factors for the development of infertility. Clinical significance: Patients with infertility should be screened for all three study parameters viz. ACA, ASA, and thyroid levels and subsequent treatment protocols to resolve all possible adverse results to within normal levels for the success of ART. Research highlights • The present study found higher levels of anti-Chlamydia antibody in patients with primary infertility compared with the control group indicating the strong association between chlamydial infections and infertility. • The present study found higher levels of antisperm antibodies in the serum of patients with primary infertility compared with the control group implying a significant role for ASA and development of infertility. • Thyroid disorders such as hypothyroidism due to elevated TSH and hyperthyroidism associated with increased total serum T3 or T4 are several times higher in infertility patients when compared with the general population providing evidence for thyroid imbalance and infertility. • All three study parameters—anti-Chlamydia antibodies, ASA, and thyroid levels occurring together in any one patient may tend to cause infertility.","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43584635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypothyroidism and Hyperprolactinemia as a Cause of Primary Infertility: A Single Center Study","authors":"Nihida Akhter, Asma Khanday, I. Mir","doi":"10.5005/jp-journals-10016-1222","DOIUrl":"https://doi.org/10.5005/jp-journals-10016-1222","url":null,"abstract":"Introduction: Infertility is a common condition, with important medical economic and psychological implications. We have observed a surge in cases of primary infertility in our OPD of late. Hypothyroidism and hyperprolactinemia have been implicated as a cause of primary infertility. Materials and methods: We conducted a prospective cross-sectional study in our hospital, Government Medical College, on an OPD basis, between May 2017 and January 2019, to check for hypothyroidism and hyperprolactinemia as a cause of primary infertility among females, after ruling out other common implicated factors that may be the cause of infertility. We labeled the study group as group I and the control group as group II. Results: The mean age of patients in group I was 26.21 years, and that in group II was 25.63 years, respectively. The average time since marriage in group I was found to be 1.67 years and that in group II was 1.78 years, respectively. The rural–urban ratio of patients in group I was 23:27 and that in group II was 34:16. The mean TSH level in group I was found to be 7.11 ± 1.91 and that in group II was found to be 3.28 ± 2.11. The mean levels of serum prolactin in group I were 41.62 ± 20.02 and that in group II were 22.36 ± 15.61, respectively. There was a high prevalence of hypothyroidism and hyperprolactinemia in group I when compared with group II. Conclusion: This study showed significantly higher prolactin and TSH levels among the primary infertile female patients. Therefore, for proper management of infertile cases, it may be necessary to look for thyroid dysfunction and treat it accordingly.","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41715327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of TP53 Gene Polymorphism in Male Infertility","authors":"Rekha Govindhasamy, P. Govindhasamy, Rajitha Vanga, Pushpa P. Burute","doi":"10.5005/jp-journals-10016-1218","DOIUrl":"https://doi.org/10.5005/jp-journals-10016-1218","url":null,"abstract":"Introduction: The TP53 gene is located on chromosome 17p13.1. P53 gene considered as the guardian of the genome belongs to a three- membered gene family p53 , p63 , and p73 . 1 p53 plays a vital role in human cancer and whose mutation was observed in nearly 50% of cancer all around the world. In the present study, genotype distribution was assessed in 147 infertile males, fertile males, and the associations of TP53 Arg72Pro polymorphism with hormonal and seminal parameters were investigated. Materials and methods: A total of 147 infertility men and 150 fertile men were taken for the study. Polymerase chain reaction (PCR) was carried out to amplify the exon 4 of the human p53 CODON 72 genotyping was performed by restriction fragments length polymorphism (RFLP). Results: In summary, the AA genotype and the A allele are significantly associated with azoospermic men when compared to fertile men. Conclusion: The study found preliminary evidence demonstrated that the TP53 gene Arg72 Pro polymorphism contributes significant association to male infertility. Aim and objective: To analyze the association of p53 gene polymorphism in male infertility cases in the study population.","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42157463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness of Cognitive-behavioral Therapy on Psychological Well-being in Infertile Women: A Randomized Controlled Trial","authors":"Zahra Marashi, N. Behroozi, M. Haghighi-zadeh, R. Nikbakht, Z. Abbaspoor","doi":"10.5005/jp-journals-10016-1220","DOIUrl":"https://doi.org/10.5005/jp-journals-10016-1220","url":null,"abstract":"bstrAct Background: Psychological well-being is a psychological variable that affects infertile women. This study aimed to explore the effect of cognitive- behavioral therapy (CBT) on the psychological well-being of infertile women. Materials and methods: Sixty-eight women with infertility randomly allocated into two groups: CBT ( n = 34) and control ( n = 34) groups. The women in the CBT program were divided into two subgroups of 12 and one group of 10, with each receiving eight therapy sessions (each session lasting 90 minutes). Psychological well-being was measured using a demographic questionnaire and the short-form Ryff Psychological well-being scale. The independent and paired t -tests, Chi-square, repeated measures, and ANCOVA tests were used to analyze the data. Results: Two women from the CBT and three from the control groups withdrew from the study. In the CBT group, the general psychological well- being score and self-acceptance, positive relationship, autonomy, purpose in life, personal growth, and environmental mastery dimensions’ scores were improved after the intervention. The scores also were significantly higher in the case group than those in the control group ( p < 0.001). Conclusion: Cognitive-behavioral therapy can improve all aspects of psychological well-being, including self-acceptance, positive relationships, autonomy, purpose in life, personal growth, and environmental mastery in infertile women.","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44855148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"“One Size does not Fit All” during Ovarian Stimulation for IVF","authors":"K. Rao, Rupali Khurana, V. Rao","doi":"10.5005/jp-journals-10016-1219","DOIUrl":"https://doi.org/10.5005/jp-journals-10016-1219","url":null,"abstract":"Ovarian stimulation (OS) is the heart of IVF. Various OS protocols are developed and many of them are still being explored to provide an individualized approach, making the care more patient-centric. Premature LH surge is one of the potential side effects accompanying the OS, and to prevent this phenomenon either GnRH analogs or progesterone are being used. The following case report is of a PCOS patient undergoing COS using progesterone-primed ovarian stimulation (PPOS) which was modified by adding GnRH antagonist in the middle of stimulation due to accelerated growth of a single follicle in one ovary. The premature luteinization was prevented and the stimulation cycle was salvaged, giving a good outcome in terms of mature oocyte, grade of embryos, and pregnancy. This case report emphasizes the importance of strict monitoring as well as an individualization of each stimulation cycle to case to case basis for achieving the best outcome.","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43135489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Otocephaly: Agnathia-Microstomia-Synotia Syndrome","authors":"T. Kitova, B. Kitov","doi":"10.5005/jp-journals-10016-1195","DOIUrl":"https://doi.org/10.5005/jp-journals-10016-1195","url":null,"abstract":"The aim of the study is to present otocephaly, which is a rare congenital lethal malformation. Until this moment, only a little bit more than 100 cases worldwide were reported, and only 22 cases of prediagnosed otocephaly. Background: Otocephaly or agnathia-microstomia-synotia syndrome (SAMS) is characterized by agenesis of mandible (agnathia), disposition or fusion of the auricle (synotia), microstomia, and complete or partial lack of language (aglossia), which often ends up lethal. Case description: A 499.7 g male fetus was obtained after a therapeutic abortion during the 23rd gestational week at the Center for Maternity and Neonatology, Embryo-fetopathology Clinic, Tunis, Tunisia. The mother is an 18-year-old with close relative marriage with first-degree incest, primigravida. Examination of the fetus revealed microcephaly with craniosynostosis, hypertelorism, closed eyelid exophthalmos, one nostril, point microstomia, mandibular agenesis, bilateral, and auditory cysts of neck. The ears are located at the level of the neck. A study of the brain and the base of the skull revealed holoprosencephaly and sphenoid bone agenesis. There are no internal organ abnormalities. Conclusion: In cases where, at the end of the second trimester of pregnancy, polyhydramnios is detected, inability to visualize the mandible, and malposition of ears, otocephaly should be suspected. In these cases, the decision to interrupt pregnancy should be taken by a multidisciplinary team, after an magnetic resonance imaging, which is much better in visualizing location of the ears and other facial malformations and the presence of other associated anomalies. Clinical significance: Otocephaly (SAMS) is usually incompatible with life, which is why it is important to perform prenatal diagnosis in order to make prognosis for pregnancy.","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48508077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development and Formulation of Phytoestrogen-rich Supplement for Women with Polycystic Ovary Syndrome","authors":"P. Narayanan, G. Kalidoss, Supriya Velraja","doi":"10.5005/jp-journals-10016-1221","DOIUrl":"https://doi.org/10.5005/jp-journals-10016-1221","url":null,"abstract":"","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45110994","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of MTHFR Gene Polymorphisms in Male Infertility","authors":"Nandhini Balunathan, Vettriselvi Venkatesen, J. Chauhan, Sanjeeva Reddy, V. Perumal, S. Paul","doi":"10.5005/JP-JOURNALS-10016-1213","DOIUrl":"https://doi.org/10.5005/JP-JOURNALS-10016-1213","url":null,"abstract":"Ab s t r Ac t Background: Folate metabolism plays an important role in appropriate cellular function, DNA methylation, repair, and synthesis. C677T and A1298C variants of methylenetetrahydrofolate reductase (MTHFR) play a role in reduced plasma folate and increase the susceptibility to various multifactorial disorders. Aim and objective: The present study was aimed to detect the association of C677T polymorphism and A1298C polymorphism in the MTHFR gene with male infertility. Materials and methods: In the current study, we analyzed a group of 50 infertile men with a clinical history of nonobstructive azoospermia or severe oligozoospermia. For the control group, we also analyze 50 fertile men. Cytogenetic analysis revealed a normal male karyotype in 50 cases of infertile men, which further subjected to molecular analysis. The expected genotype and allele frequencies were calculated for both infertile men and controls. These frequencies were tested when the study group followed Hardy–Weinberg equilibrium. The interaction between the MTHFR genotypes was calculated using the odds ratio for mutant genotypes as compared to the wild types. To evaluate the risk of the different genotypes, 95% confidence intervals (CI) were calculated. Results: The A1298C polymorphism of the MTHFR gene was present at a statistically increased significance in infertile men. Interpretation and conclusion: We concluded that MTHFR C677T gene polymorphism is not associated with male infertility whereas A1298C gene polymorphism showed a significant increase in male infertility. To better understanding the causes of male infertility, future studies to be conducted in a large population to obtain a better understanding of the complex gene-to-gene interactions.","PeriodicalId":38998,"journal":{"name":"International Journal of Infertility and Fetal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43491222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}