Journal of Human Reproductive Science
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    Table of Contents - Current issue
April-June 2019
Volume 12 | Issue 2
Page Nos. 75-172

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From the Editor's Desk p. 75
Madhuri Patil
DOI:10.4103/jhrs.JHRS_81_19  PMID:31293319
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Body composition, metabolic characteristics, and insulin resistance in obese and nonobese women with polycystic ovary syndrome Highly accessed article p. 78
Anil Satyaraddi, Kripa Elizabeth Cherian, Nitin Kapoor, Aleyamma Thaiparambil Kunjummen, Mohan S Kamath, Nihal Thomas, Thomas V Paul
DOI:10.4103/jhrs.JHRS_2_19  PMID:31293320
Objectives: The objective was to compare body composition, metabolic characteristics, and insulin resistance between obese (body mass index [BMI] ≥25 kg/m2) polycystic ovary syndrome (PCOS) and nonobese PCOS (BMI <25 kg/m2) women and their age- and BMI-matched controls. Materials and Methods: A total of 81 PCOS women (Rotterdam criteria) (obese – 42; nonobese – 39) and 86 controls (obese – 42; nonobese –44) were recruited in this cross-sectional study. All women underwent a detailed assessment of clinical, anthropometric, and metabolic parameters, insulin resistance indices, and body composition measurements with visceral adipose tissue assessment (VAT) (dual-energy X-ray absorptiometry scan). Results: Of PCOS women, 27% (80% – obese PCOS; 20% – nonobese PCOS) were diagnosed with metabolic syndrome (International Diabetes Federation criteria), 35% of PCOS women (46% – obese PCOS; 54% – nonobese PCOS) had impaired glucose tolerance, and 7% of PCOS women (2/3rd – obese PCOS; 1/3rd – nonobese PCOS) had diabetes mellitus. Insulin resistance was seen in about 80% in obese PCOS women and 20% in nonobese PCOS women based on various insulin resistance indices such as fasting insulin (≥12.2 μU/ml), Homeostasis Model Assessment-Insulin Resistance (≥2.5), and Quantitative Insulin Sensitivity Check Index (<0.33). Total body fat, estimated (Est.) VAT, and corrected Est. VAT (corrected for body weight) were significantly increased (P = 0.0001) in both obese and nonobese PCOS women when compared to those of their age- and BMI-matched controls. However, corrected Est. VAT (corrected for body weight) was not significantly different between obese and nonobese PCOS women. Conclusion: Both obese and nonobese PCOS women when compared with their age- and BMI-matched controls were metabolically worse and had more visceral adiposity. Nonobese PCOS poses similar risk as that of obese PCOS in having similar amount of VAT (corrected for body weight).
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Genetics of female infertility: Molecular study of newborn ovary homeobox gene in poor ovarian responders p. 85
Osamah Batiha, Nour Alhoda Alahmad, Amer Sindiani, Khaldon Bodoor, Sherin Shaaban, Mohammad Al-Smadi
DOI:10.4103/jhrs.JHRS_112_18  PMID:31293321
Background: Newborn ovary homeobox (NOBOX) gene plays a critical role in the transcriptional regulation of oocyte-specific genes. Previous studies have demonstrated a pathogenic effect of NOBOX variants on premature ovarian insufficiency (POI) patients. Poor ovarian response (POR) is a risk factor for POI. Therefore, genetic variants in the NOBOX gene may also be studied as risk factors for POR development. Aims: The aim of the study is to investigate the association between seven known NOBOX single-nucleotide polymorphisms (SNPs) and POR in Jordanian females. Settings and Design: This was a case–control study of 60 females with POR for controlled ovarian hyperstimulation and 59 healthy females with no history of reproductive problems. Blood samples were collected from the participants and seven SNPs of NOBOX gene were screened. Subjects and Methods: DNA was extracted from blood samples. Polymerase chain reaction with primers specific for seven known SNPs in NOBOX gene was used to amplify the specified region within the gene followed by Sanger sequencing. Results: The seven SNPs investigated in this study, namely, rs77587352 (c.271G>T, p. Gly91Trp), rs7800847 (c.349C>T, p. Arg117Trp), rs193303102 (c.907C>T, p. Arg303X), rs193303103 (c.1025G>C, p. Ser342Thr), rs193303104 (c.1048G>T, p. Val350Leu), rs201947677 (c.1064G>A, p. Arg355His), and rs146227301 (c.1856C>T, p. Pro619Leu), only represent the wild-type allele in both females with POR and healthy participants. Conclusions: The results show that only monomorphic genotype of the NOBOX variants was found in Jordanian females studied.
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Chromosomal aberrations in primary amenorrhea: A retrospective study p. 92
Seema Korgaonkar, Somprakash Dhangar, Vinayak Kulkarni, Lily Kerketta, Babu Rao Vundinti
DOI:10.4103/jhrs.JHRS_107_16  PMID:31293322
Objectives: The aim of this study was to estimate the frequency of chromosomal abnormalities and establish the association with clinical of factors such as secondary sexual characters and gonad development in primary amenorrhea (PA). Study Design: The study was carried out in a large cohort of PA. The chromosomal aberrations were correlated with secondary sexual characters and anatomical abnormalities. Materials and Methods: The data of 490 cases of PA were collected retrospectively. The chromosomal preparations were done from the peripheral blood and subjected to giemsa-trypsin-giemsa banding and karyotyped according to the International System of Human Cytogenetic Nomenclature 2013. The fluorescence in situ hybridization was carried out using centromeric and whole painting probes for X and Y chromosome. Statistical Analysis: Statistical analysis of the data was performed using online version of social science statistics software. Results: A high frequency of abnormal uterus (81.9%) and ovaries (86.7%) were detected in our study. A total of 121 (24.7%) cases were identified with abnormal karyotype. The numerical chromosomal abnormalities were identified in 53 (43.8%) cases while structural abnormalities were identified in 32 (26.4%) cases. The XY karyotype was detected in 29.8% females with PA. The PA individuals with anatomical abnormalities (84.3%) had a high frequency (24.6%) of chromosomal aberrations. Conclusions: The present study concluded that cytogenetics plays an important role in precise diagnosis which helps in the management of PA. The cytogenetic analysis should be carried out to know the genetic basis of PA.
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Clinical outcome analysis and correlation of reproductive outcome with endometriosis fertility index in laparoscopically managed endometriosis patients: A retrospective cohort study p. 98
Neha Negi, Kallol Kumar Roy, Sunesh Kumar, Vinod G Nair, P Vanamail
DOI:10.4103/jhrs.JHRS_157_18  PMID:31293323
Background: Laparoscopy is important for management of endometriosis patients with estimation of endometriosis fertility index (EFI) which can predict reproductive outcome. Aims: This study aims to evaluate clinical outcome in laparoscopically managed pelvic endometriosis and correlation of reproductive outcome with EFI. Setting and Design: Retrospective cohort study carried out in the Department of Obstetrics and Gynecology. Materials and Methods: Our study included 123 patients who had undergone laparoscopic management of endometriosis from January 2017 to March 2018. Case files were retrieved and meticulously analyzed. All patients were contacted and interviewed. Symptomatic relief and pregnancy in infertility patients were recorded. EFI was calculated. Statistical Analysis: Data analyses were carried out using statistical software STATA version 12.0. P < 0.05 was considered statistically significant. Results and Conclusions: A total of 123 cases were enrolled; the most common complaint was infertility 107 (86.99%); the mean age was 32.4 years. EFI was found to be (6 to 10) in 28(26.2%) patients, EFI of (4 to 5) in 49 (45.8%) and EFI of (0 to 3) in 30 (28.0%). Post surgery, dysmenorrhoea was relieved in 56 (65.88%) patients, menstrual irregularities were relieved in 45 (76.27 %) patients, dyspareunia in 32 (54.24%) and chronic pelvic pain in 24 (40.5%) patients. 8 (40%) patients with low EFI conceived, 20 (58.82%) with moderate, and 26 (96.29%) with high EFI conceived. EFI score showed statistically significant positive correlation with pregnancy outcome P = 0.001, higher the EFI score, better the reproductive outcome. Laparoscopic surgeries are important for managing patients of endometriosis. It provides significant symptomatic relief, and EFI estimation can be done, which is a good tool to predict reproductive outcome of infertility patients with endometriosis.
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Establishing an Anti-Müllerian hormone cutoff for diagnosis of polycystic ovarian syndrome in women of reproductive age-bearing Indian ethnicity using the automated Anti-Müllerian hormone assay p. 104
Nalini Mahajan, Jasneet Kaur
DOI:10.4103/jhrs.JHRS_149_18  PMID:31293324
Context: Polycystic ovary syndrome diagnosed by Rotterdam criteria, is the most common cause of anovulatory infertility. The criteria of polycystic ovarian morphology (PCOM) are subject to operator variability and technological advances. Serum anti-Müllerian hormone (AMH) level has been proposed as a more reliable alternative to antral follicle count. There is a paucity of data on use of AMH for diagnosis of PCOS in Indian women. Aim and Objectives: The aim of this study is to determine a cutoff level for AMH that could facilitate diagnosis of PCOS and its phenotypes in women of Indian origin using the automated (Roche) assay and to compare the competence of oocytes in PCOS and non-PCOS women undergoing in vitro fertilization-intracytoplasmic sperm injection (IVF-ICSI). Materials and Methodology: A total of 367 women undergoing treatment at our fertility center between February 2017 and August 2017 were prospectively enrolled in this study. Of these, 133 were diagnosed with PCOS, 69 had isolated PCOM, and 165 (controls) had normal ovaries on ultrasound examination. Serum AMH levels were assessed using the fully automated Roche Elecsys® immunoassay. Gonadotropin-releasing hormone antagonist protocol was used for IVF-ICSI in all patients. Statistical Analysis Used: Quantitative variables were compared using the Mann–Whitney test. Qualitative variables were correlated using the Chi-square test. P < 0.05 was considered to be statistically significant. Results: Mean AMH concentrations in women with PCOS was higher (7.56 ± 4.36 ng/mL) in comparison to PCOM and controls. Serum AMH concentration >5.03 ng/mL could facilitate diagnosis of PCOS (area under the curve = 0.826); sensitivity –70.68%, specificity of 79.91%. There was no difference in the ratio of mature to total oocytes retrieved in the three groups (P > 0.05). Mean number of mature oocytes was lower in controls than PCOS and PCOM (P < 0.001). Conclusions: Serum AMH concentration >5.03 ng/mL could be used as cutoff value for the diagnosis of PCOS in women of Indian origin.
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p53 protein evaluation on spermatozoa DNA in fertile and infertile males p. 114
Salvatore Raimondo, Tommaso Gentile, Mariacira Gentile, Alessia Morelli, Francesca Donnarumma, Felice Cuomo, Stefania De Filippo, Luigi Montano
DOI:10.4103/jhrs.JHRS_170_18  PMID:31293325
Introduction and Objectives: Protein p53 role in the spermatogenesis is demonstrated, it guarantees both the appropriate quality and quantity of mature spermatozoa. In this observational study we evaluate the eventual correlation between “corrected” p53 concentration on human spermatozoa DNA and male fertility potential. Materials and Methods: Our work is based on an observational study made of 169 male in a period between March 2012 and February 2017. The entire study group is composed by 208 male partners aged between 26-38 years with ejaculate volume from 0.6 to 5.8 mL and heterogeneous seminal valuation: 86/208 (41,3%) normospermic; 19/208 (9,1%) mild oligospermic; 51/208 (24,5%) moderate oligospermic to; 52/208 (25,1%) with severe oligospermic. The “control” group A includes 39 male partners considered “fertile”, because we did the p53 “corrected” test on their spermatozoa after 28 ± 3,5 days from the positives of their partners pregnancy test (betaHCG> 400 m U/m L). The group B, subdivided in B1, B2 and B3, includes 169 male partners for a observational period of 60 months. This partners don't report previous conceptions, they aren't smokers, don't make use neither of alcohol nor drugs and don't present pathologic varicocele studied with ecoColorDoppler. They are all married or stable cohabitants from a period of 27-39 months and report to have frequent sex without protection with their partners. Determination of p53 procedure: To separate the spermatozoa from seminal fluid we utilized the Differex™ kit System and the DNA IQ™ kit (Promega). For the p53 test we used the direct DuoSet IC kit and quantitative (R&D System). The p53 values were corrected in respect to the spermatozoa concentration expressed in ng/millions of spermatozoa. Results: Group A (39 male) presents “correct” p53 values that vary from 0.35 to 3.20 ng/millions of spermatozoa and group B presents values that vary from 0.68 to 14.53. From group B (48 male) in the observational period we have recorded 21 pregnancies with initial “correct” p53 values that vary from a minimum of 0.84 to a maximum of 3.29. In the subgroup B1 we obtained 8 pregnancies from male partners with a “correct” p53 concentration included between 0.84 to 1.34. In the subgroup B2 we obtained 13 pregnancies from male partners with a “correct” p53 concentration included between 1.66 and 3.29. In the subgroup B3 (121 male) there weren't neither pregnancies nor miscarriages and “correct” p53 values were included between 3.58 and 14.53. Conclusion: The results show that the member of the group A with values of 'corrected' p53 between 0.35 and 3.20 were considered “Fertile”, although in the observational period 3 miscarriages happened for 3 partners. 36 partners on 39 (92,3%) had a p53 concentration inferior to 1.65, this value were considered as the extreme to identify this group. The member of the group B1 had “corrected” p53 concentration that were included in the group. In the group B2 were observe 13 pregnancies, so its member were considered “potentially fertile” In the group B3 (121 male) weren't observe neither pregnancies nor miscarriages, so its member were considered “potentially infertile”. If further studies confirm these data, we will consider the p53 test ELISA inspected in “correct” p53 as a new and accurate marker of the potential of male fertility.
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Effect of spermatic nuclear quality on live birth rates in intracytoplasmic sperm injection p. 122
Maroua Hachemi, Mustapha Bensaada, Abdelkader Rouabah, Abdelali Zoghmar, Sebti Benbouhedja, Leila Rouabah, Mehdi Benchaib
DOI:10.4103/jhrs.JHRS_81_18  PMID:31293326
Background: Our study defines the clinical role of sperm DNA damage in the assisted reproductive technology procedure. Aim: To investigate if the compaction of chromatin explored added to the analysis of the sperm DNA fragmentation allows obtaining a new indicator for sperm genome quality linked to live birth rate (LBR). Design: This was a prospective study, undergoing 101 cycles in the intracytoplasmic sperm injection (ICSI) program. Materials and Methods: The sperm DNA fragmentation index (DFI) has been measured with sperm chromatin dispersion examination. The sperm decondensation index (SDI) of chromatin has been measured with aniline blue procedure; with these indexes, a new parameter has been created: DFI × SDI. Statistical Analysis: Pearson's correlation coefficient, Student's t-test, and Chi-square test were used. The quantitative variables were described as mean ± standard deviation. Multivariate logistic regressions were performed with live birth as outcome. Results: The sperm concentration, motility, and normal morphology were lower when the DFI was high (P = 0.001). The fertilization rates and the number of obtained embryos were not statistically significant different according to the DFI groups. The SDI does not appear to be linked either with the spermatic parameters or with the ICSI parameters. A low DFI seems to be a beneficial factor to obtain a live birth in ICSI procedure (P = 0.064). In case of high DFI, a high SDI allows to obtain a higher LBR than a low SDI. Conclusion: The DFI is a good prognostic for a delivery rate in ICSI procedure, and the SDI could be added to DFI to create a new parameter of sperm nuclear quality. This new parameter seems to be linked to LBR.
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Evaluation of periodontal status among men undergoing infertility treatment p. 130
Chethana Kunthur Chidambar, Shrinidhi Maji Shankar, Raj Kishen Agarwal, Kala S Bhushan, Soumya Badravalli Gururaj
DOI:10.4103/jhrs.JHRS_168_18  PMID:31293327
Aims: It has been estimated that >30% of male infertility cases are of idiopathic etiology. Recent studies revealed a positive connection between periodontal pockets and sperm submotility, which proposes that periodontitis may have a role in male infertility and inadequate semen quality. The aim of the present investigation was to inspect the relationship between male fertility parameters and the periodontal status of male patients attending in vitro treatment (IVF) clinic. Materials and Methods: The study participants comprised 85 men going to the facility for sperm investigation before semen insemination. The nature of sperm was surveyed by the WHO 2010 criteria. On the same day, male patients were examined for periodontal parameters. Results: The patients were determined to have either gingivitis (24.7%) or periodontitis (75.3%). Normospermia was credited to 23.5% and oligozoospermia to 43.5%. Sperm submotility was seen in 76.4% of patients. A higher number of sites with clinical attachment loss showed a positive correlation with sperm submotility and sperm count. Conclusions: The findings of the present study showed a conceivable relationship between male infertility, decreased semen quality, and periodontal diseases in men visiting IVF centers. Periodontitis may subsequently play a role in male infertility.
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Correlation between serum progesterone level on the day of ovulation trigger during In vitro fertilization and its effect on treatment outcome p. 136
N Nagaraja, Pankaj Talwar, Bhaskar Mukherjee, Barun Kumar Chakrabarty
DOI:10.4103/jhrs.JHRS_115_18  PMID:31293328
Background: Premature luteinization (PL) is defined as a premature rise in serum progesterone concentration on or before the day of ovulation trigger with human chorionic gonadotropin. The incidence of PL varies between 5% and 30% during in vitro fertilization and embryo transfer (IVF-ET). Materials and Methods: The prospective observational study comprising 380 patients undergoing IVF-ET. Blood samples were collected for serum progesterone level estimation on the day of ovulation trigger. Ovum pickup was done 36 h later and serum progesterone levels were correlated with IVF-ET outcome. Study Outcome: To correlate serum progesterone level on the day of ovulation trigger during IVF and its effect on treatment outcome. Results: Mean serum progesterone level in the positive pregnancy group and negative pregnancy group was 0.892 ± 0.752 ng/ml and 0.91 ± 0.688 ng/ml, respectively (P = 0.961). The overall incidence of PL was 12.8% with 12.7% and 13.6% in the agonist and antagonist protocol respectively (P = 0.9001). PL incidence was 13.5% and 13.4% in positive pregnancy and negative pregnancy group (P = 0.223). Conclusion: PL has been associated with 12.8% of the IVF cycles. There was no statistically significant difference observed in the incidence of PL between different IVF stimulation protocols. PL does not seem to affect IVF outcome.
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Embryonic aneuploidy after preimplantation genetic screening: Age- and indication-matched comparative study between Indian and Spanish population p. 141
Aditi P Kotdawala, Pere Mir, Javier Herrero, Rajni Khajuria, P G. L. Lalitkumar, Manish R Banker
DOI:10.4103/jhrs.JHRS_109_18  PMID:31293329
Background: Recent studies show that there are differences in female fertility in different ethnic groups with ovarian aging and IVF treatment outcomes. Advanced maternal age is a known risk factor for miscarriage, accounting largely due to genetically abnormal fetus. Aims and Objectives: This study investigates if there are any differences in rates of embryo aneuploidy based on age and indications for preimplantation genetic screening (PGS) between Indian and Spanish women. Materials and Methods: This multicenter study was carried out at fertility centers in India and Spain. Data from autologous IVF cycles of women <45 years age (Spanish: 39.4 ± 3.8 years; Indian: 35.3 ± 4.6 years) were included. A total of 37,962 embryos from 7009 IVF cycles from Spain and 1894 embryos from 308 IVF cycles from India, having similar clinical indications, underwent similar IVF treatment protocol. The embryos were analyzed by PGS using either a day-3 or day-5/6 embryo biopsy. Results: Both Indian and Spanish ethnic population showed a reduction in aneuploidy rate in day-5/6 biopsy compared with day-3 biopsy (Spanish: 53.3% vs. 81.1%, P < 0.01; Indian: 50% vs. 75%, P < 0.02). There was a significant decrease in highly abnormal or chaotic embryos in trophectoderm biopsies compared with day-3 biopsies (Spanish: 2% vs. 16.1%, P < 0.01; Indian: 2.5% vs. 17.7%, P < 0.01). Both the populations showed similar trend in aneuploidy rate with maternal age. The results showed no significance between aneuploidy rate compared within different age groups and indications. However, there was a significant reduction in the miscarriage rate in Spanish population in day-3 biopsy compared with Indian population (10.7% vs. 19.8%; P < 0.05; 95% confidence interval [0.0044–0.0712]). There were no differences in the clinical outcomes compared between the two populations. Conclusion: This study shows that the aneuploidy rates between Indian and Spanish women of the same age group undergoing IVF treatment do not differ. An in-depth analysis to compare the types of anomalies reported with PGS in both the population will be of much interest.
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Comparison of conventional slow freeze versus permeable cryoprotectant-free vitrification of abnormal semen sample: A randomized controlled trial p. 150
Muthukumar Karthikeyan, Darshana Arakkal, Ann M Mangalaraj, Mohan S Kamath
DOI:10.4103/jhrs.JHRS_154_18  PMID:31293330
Background: The cryopreservation of semen samples by slow freezing remains as standard protocol. Recently, vitrification of spermatozoa was successfully reported with superior outcome. Till date, there is no randomized trial comparing the two different protocols. Aim: The aim of the present study is to evaluate the slow freezing with vitrification of the subfertile men spermatozoa to evaluate the progressive motility, vitality, and chromatin integrity. Setting: The study was conducted at University teaching hospital. Design: Study design involves randomized control trial. Materials and Methods: Twenty subfertile men with semen characteristics of severe oligoasthenozoospermia (SOA) and very SOA (VSOA) randomized to undergo slow freezing and vitrification protocol and cryopreserved at 1-month and 6-month storage interval, postthawed or warmed, samples were assessed for progressive motility, vitality, and hyaluronan binding. SPSS version 14 software was used for statistical analysis. Results: The SOA samples at 1 month revealed significantly higher motility (42% [22%–74%] vs. 7% [1%–13%]; P = 0.015) and vitality (57% [45%–78%] vs. 34.5% [27–42]; P < 0.001) following vitrification compared to slow-freeze method. For Very severe oligoasthenozoospermia (VSOA), the motility was significantly higher following vitrification (14.5% [2%–32%] vs. 2.5% [0%–4%]; P = 0.007). At 6 months, no statistically significant difference in motility was found between the two groups for Severe Oligoasthenozoospermia (SOA) samples (27% [13%–62%] vs. 8% [0%–11%]; P = 0.066), but motility was significantly higher following vitrification for VSOA samples (12.5% [3%–32%] vs. 2% [1%–5%]; P = 0.019). The hyaluronan-binding assay was comparable in both the groups at 6 months. Conclusions: The current study found the vitrification method involving the use of only nonpermeable cryoprotectants for cryopreservation of abnormal semen sample to be an effective alternative to the conventional slow-freeze technique.
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Live birth rates in In vitro fertilization cycles with oocytes containing smooth endoplasmic reticulum aggregates and normal oocytes p. 156
Sumana Gurunath, Reeta Biliangady, Uma Maheshwari Sundhararaj, Ambika Gangadharswamy, Swathi Gundlapalli, G Murali Mohan Reddy
DOI:10.4103/jhrs.JHRS_92_18  PMID:31293331
Aims: The aims of this study were to compare the live birth, embryological and pregnancy outcomes after intracytoplasmic sperm injection (ICSI) in patients who have oocytes with smooth endoplasmic reticulum aggregates (SERa+ cycles) and patients with normal oocytes and to compare the pregnancy outcomes based on the observed frequency of SERa. Settings and Design: The current study was a retrospective case record review of patients undergoing ICSI from 2012 to 2016 in a specialty fertility center. Materials and Methods: The patients were divided into two groups based on the presence of SERa: patients with at least one oocyte containing SERa (SERa+ cycles) (n = 112) and patients with normal oocytes (n = 839). The primary outcome measure was live birth rate. The secondary outcome measures were fertilization rate, cleavage rate, blastocyst formation rate, clinical pregnancy rate, miscarriage rate, and anomalies in children born. Results: Women with SERa+ cycles showed similar live birth rates, fertilization rates, cleavage rates, blastocyst formation rates, clinical pregnancy rates, miscarriage rates, and abnormalities in children compared to women with normal oocytes. A gradual reduction in live birth rates was observed when the percentage of oocytes containing SERa increased. The group containing >50% of oocytes with SERa demonstrated no live births. Conclusions: Presence of SERa had no major overall negative impact on key embryological and live birth outcomes. A reduction in the live birth rate with increasing proportion of SERa oocytes was observed, with no live births in the group with >50% or all affected oocytes.
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Comparison of perinatal outcomes of singletons following vanishing twin phenomenon and singletons with initial single gestational sac conceived following assisted reproductive technology: A retrospective analysis p. 164
Treasa Joseph, Hepsy Y Selliah, Muthukumar Karthikeyan, Achamma Chandy, Aleyamma T Kunjummen, Mohan S Kamath
DOI:10.4103/jhrs.JHRS_127_18  PMID:31293332
Aim: The aim of the study was to compare the perinatal outcomes between singletons following vanishing twin phenomenon and singletons arising from initial single gestational sac following assisted reproductive technology (ART) treatment. Setting and Design: This was a retrospective cohort study. Materials and Methods: A retrospective cohort study included analysis of all singleton births following ART over a period of 7 years (January 2010 –December 2016). All women who underwent fresh or frozen embryo ART cycles were followed up. The study population included all singleton births following spontaneous reduction of one of the gestational sacs in dichorionic diamniotic twin pregnancies. The perinatal outcome of this group was compared with those of singletons arising from the initial single gestational sac. Results: A total of 521 singleton births were recorded during the study period. In the study group, 72 singleton births had spontaneous reduction of one of the gestational sacs (vanishing twin group) and the remaining 449 had an initial single gestational sac. The risk for low birth weight (LBW) (14/72, 19.4% vs. 96/449, 21.6%) and preterm birth (PTB) (17/72, 23.6% vs. 134/449, 29.8%) was not significantly different between those singletons who had spontaneous reduction from two gestational sacs to single sac compared to those with initial single sac. The miscarriage rate was significantly lower in vanishing twin group compared to control group (7/84, 8.3% vs. 157/622, 25.2%; P = 0.01). The subgroup analysis based on spontaneous reduction occurring before or after the appearance of the embryonic pole also showed similar risk of PTB (11/41, 26.8.% vs. 9/31, 29.0%) and LBW (7/41, 17.1% vs. 9/31, 29.0%). Conclusion: Perinatal outcomes in singleton live births following vanishing twin phenomenon are similar to those pregnancies with an initial single gestational sac following ART.
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A case of mixed gonadal dysgensis: A diagnostic challenge p. 169
Uma Kaimal Saikia, Dipti Sarma, Darvin Vamadevan Das, JK Goswami, Kaushik , Chandan Saikia, Abilash Nair
DOI:10.4103/jhrs.JHRS_100_18  PMID:31293333
A 2-year-old child reared as a girl child was brought by parents with ambiguous genitalia noticed since birth. There was no history of failure to thrive or salt-losing crisis. On examination, the child had normal height and weight with normal blood pressure and no dysmorphism or Turners stigmata with external genitalia Prader Score 2. Ultrasound of the pelvis revealed hypoplastic uterus with no gonads visualized. There was no evidence of hypocortisolemia (8 am cortisol 14.08 mcg/dl) or elevated level of 17-OH-progesterone (1.1 ng/mL). Pooled follicle-stimulating hormone and luteinizing hormone levels were 2.66 mIU/ml and 0.1 mIU/ml, respectively, thyroid-stimulating hormone: 2.36 mIU/L, T4: 134.5 nmol/L, total testosterone: 2.5 ng/dl. Posthuman chorionic gonadotropin stimulation showed total testosterone levels 267 ng/dL, dihydrotestosterone: 155 pg/mL, androstenedione: 0.3 ng/mL indicating functioning testicular tissue without any evidence of 17-beta hydroxylase or 5-alpha reductase deficiency. Karyotyping revealed 45, XO genotype on two separate occasions. In view of the discrepancy between karyotype finding and ultrasound reports with the clinical and hormonal picture, fluorescence in situ hybridization cytogenetic study was carried out and showed MONOSOMY X (90% cells)/SEX ANEUPLOIDY XYY (10% cells). Laparoscopic examination showed gonad in the right ovarian fossa and left streak gonad with bilateral fallopian tubes and hypoplastic uterus. Genitoscopy showed normal vagina and cervix. Cystoscopy showed normal urethra and urinary bladder. Biopsy was taken from both gonads. A thorough histopathological examination of this specimen showed the structure of seminiferous tubules with Leydig cells in the right gonad with streak ovary on the left side. The child underwent bilateral gonadectomy and rehabilitated her to lead a life as a girl.
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