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Showing 9 results for Abnormalities

Mohammad Ali Karimzadeh, Razieh Dehghani Firouzabadi, Farzaneh Goharzad,
Volume 9, Issue 3 (7-2011)

Background: Abnormal uterine bleeding is a common presentation of uterine abnormalities among premenopausal and postmenopausal women.
Objective: To evaluate and compare the diagnostic accuracy of saline contrast sonohysterography and hysteroscopy for detecting the cause of abnormal uterine bleeding.
Materials and Methods: A total of 65 women with abnormal uterine bleeding were enrolled in this study. A prior saline contrast sonohysetrography followed by a hysteroscopy was performed in all cases. Sensitivity, specificity, positive and negative predictive value and test accuracy were calculated. Results: As the most common abnormality, SCSH showed hyperplasia in 19 patients while hysteroscopy diagnosed polyp in 15 cases. A sensitivity of 73.3%, 71.4% and 90.9% were reported for polyp, hyperplasia and submucous myoma respectively whereas the specificity was calculated 96% for polyps, 82.3% for hyperplasia and 90.7% for submucous myoma.
Conclusion: Comparing with hysteroscopy, sonohysterography showed a high sensitivity and specificity for detecting submucous myoma but not for endometrial polyp and endometrial hyperplasia.
Atefeh Asgari, Safieh Ghahremani, Solmaz Saeedi, Ebrahim Kamrani,
Volume 11, Issue 3 (5-2013)

Background: Different studies show that chromosomal balance translocation in the parents can cause recurrent spontaneous abortions. Incidence of chromosomal translocation abnormalities in couples with repeated abortions is from 0% to 31%.
Objective: The purpose of this research was studying the presence or absence of chromosomal abnormalities and heteromorphism in couples with recurrent abortions and also the role of this anomaly in the abortions.
Materials and Methods: This study is a cross sectional descriptive study which have investigated 75 couples who had three abortions or more, and 65 couples who had two abortions that referred by gynecologist to the lab of Beheshti Hospital in Hamedan for cytogenetical investigation. Also 40 healthy individuals without history of abortion investigated as control group.GTG bonding technique (staining banding with gymsa and trypsin) is used in this study.
Results: Frequency of chromosomal abnormalities and heteromorphism among couples with three or more abortions were reported respectively 5.3% and 9.3%. This frequency in couples with two abortions was respectively 3.07%and 6.15%. The frequency of chromosomal heteromorphism in control group was 7.5% and no chromosomal abnormalities were observed in them.
Conclusion: This study shows that chromosomal abnormality can be one reason of recurrent spontaneous abortions and more abortion increases the probability of this anomaly. Also, existence of chromosomal heteromorphism in the general population without clinical abortion symptoms shows that chromosomal heteromorphism cannot be the reason of these spontaneous abortions.
Cyrus Azimi, Malihea Khaleghian, Farideh Farzanfar,
Volume 11, Issue 4 (6-2013)

Background: The infertility is an important health problem, affecting about 15% of couples. The important role of genetic factors in pathogenesis of infertility is now increasingly recognized. The value of karyotyping women in the routine work-out of couples referred for sterility has long been recommended.
Objective: The aim of this study was to define the frequency of all chromosomal aberrations among women which referred to our department due to infertility during the 21-year period.
Materials and Methods: In this 21-year retrospective study, for the first time, we investigated 896 women which referred to our department due to infertility during 1986 to 2006. For chromosome analysis, heparinized peripheral blood samples were cultured, harvested and banded according to standard methods.
Results: Out of 896 patients, 710 patients (79.24%) had a normal karyotype, and 186 patients (20.76%) showed abnormal karyotype. Among the abnormal ones 48 patients (25.81%) showed Turnerchr('39')s syndrome (45,X), and 45 patients (24.19%) were sex reversal with 46,XY karyotype. The rest of 93 patients (50%) revealed a wide range of chromosome abnormalities.
Conclusion: Our results emphasized the importance of the standard cytogenetic methods in assessing the genetic characteristics of infertile females, which allows detecting a variety of somatic chromosome abnormalities, because some of these may interfere with the success of reproduction.
Fadlalla Elfateh, Ruixue Wang, Zhihong Zhang, Yuting Jiang, Shuang Chen, Ruizhi Liu,
Volume 12, Issue 2 (2-2014)

Background: Wide range of disorders ranging from genetic disorders to coital difficulties can influence male fertility. In this regard, genetic factors are highlighted as the most frequent, contributed to 10-15%, of male infertility causes.
Objective: To investigate the influence of genetic abnormalities on semen quality and reproductive hormone levels of infertile men from Northeast China.
Materials and Methods: 2034 infertile men including 691 patients with abnormal sperm parameters were investigated retrospectively. Semen analysis was performed according to the World Health Organization guidelines. Y chromosome micro deletions were detected by polymerase chain reaction assays. Chromosome analysis was performed using G-banding.
Results: The incidence of abnormal chromosomal karyotype in the patients with abnormal sperm parameters was 12.01% (83/691). The most frequent cause was Klinefelterchr('39')s syndrome 37.35% (31/83). As the same as chromosomal abnormalities group, the volumes of testes (p=0.000 and 0.000, respectively) and the levels of testosterone (T) (p=0.000), and testosterone/ luteinizing hormone (T/LH) (p=0.000) of patients with Y chromosome micro deletions were significantly lower than those of fertile group. In addition, the levels of follicle-stimulating hormone (FSH) (p=0.000), and luteinizing hormone (LH) (p=0.000) were significantly higher in patients with Y chromosome micro deletions than those in the fertile group. Translocation abnormalities displayed slight effect on sperm motility.
Conclusion: Y chromosome micro deletions and sex chromosome disorders particularly Klinefelter’s (47, XXY), have severe adverse influence on normal hormone levels, testicular volume and sperm count, whereas translocation abnormalities may inversely correlate with sperm motility.
Maryam Niknejadi, Farnaz Akhbari, Fatemeh Niknejad, Gholamreza Khalili, Marzieh Shiva,
Volume 12, Issue 8 (8-2014)

Background: Traditionally, septate uterus was diagnosed with invasive method like hysterosalpingography and hysteroscopy. Nowadays transvaginal ultrasonography was reported to be a sensitive tool for detection of septate uterus too.
Objective: The objective of the present study was to evaluate the application of two dimensional ultrasound (2-DUS) and real time three dimensional ultrasound (3-DUS) in differentiating various type of septated uterus. Hysteroscopy confirmation was assigned as the gold standard.
Materials and Methods: This retrospective study was performed among 215 infertile women with suspected septate uterus from October 2008 to July 2012. An inclusion criterion was septated uterus based on HSG or experiencing abortion, preterm labor, or recurrent IVF failure. Fusion anomalies were excluded from the study (unicornuate, bicornuate and didelphys anomalies). The results of 3D and 2D sonographies were compared, while they were confirmed by hysteroscopy result in detection of septated uterus. Kappa index for agreement between 2DUS and hysteroscopy, as well as 3-DUS and hysteroscopy in detection of septate uterus was carried out. By receiver operating characteristic (ROC) curve, cut off points for predicting the kind of anomalies were proposed.
Results: The women were evaluated by 2-DUS (n=89) and (II) 3-DUS (n=126). All women underwent hysteroscopy, following 2-DUS and 3-DUS at the same or subsequent cycle. The results of kappa (K) index were 0.575 and 0.291 for 3-DUS and hysteroscopy, as well as 2-DUS and hysteroscopy, respectively. Also, the cutoff points were 27% for arcuate and subseptate, and 35% for differentiating septate and subseptate.
Conclusion: Real time 3-DUS has better ability for visualization both uterine cavity and the fundal uterine, so it has higher agreement in detection of septate uterus than 2-DUS. 
Fatima Ammar-Khodja, Zohra Hamouli, Fella Boukerbout, Karima Djerroudib,
Volume 12, Issue 12 (12-2014)

Infertility affects approximately 15% of couples worldwide. Within 50% of cases, man provides reproductive function disorders (1). The cause of infertility in men with oligospermia and azoospermia seems to be due to underlying genetic abnormalities (2). Chromosomal abnormalities are one of the causes of human infertility as they interfere with spermatogenesis. The frequency of chromosomal aberrations and specific translocations in infertile men is multiplied by 10 compared with the normal population (3). Hundred patients aged between 26 and 50 years (the middle age 35 years old), oriented by specialized medical structures, are included in our study. All patients were referred for sterility (no spontaneous pregnancy despite >1 year unprotected intercourse). Only couples with infertility primary, in which men had a review of abnormal sperm: azoospermia or severe oligospermia (concentration sperm cells <5×106 ml and mobility <40%) were included in the study. 20 metaphases for each patient were analyzed by GTG banding technique (Giemsa Trypsin G bands). In our sample, there were 76 patients (76%) with an ordinary karyotype of which 5 have a known etiology. The most frequent medical history was a mumps orchitis, testicular ectopia, right and left inguinal testicles, or a bilateral varicocele. For patients without obvious etiology, it was important to mention the environmental and other genetic factors unidentified within the limits of the used technique. The chromosome abnormality rate was 24%; the numerical type 21% and structural type 3%. The chromosomal aberrations found in this study, were gonosomal (21/24: 87.5%) and autosomal 3/24: 12.5%). In 64.2% (18/28) of patients the azoospermia was determined by aneuploidy 47, XXY (Figure 1). Subjects 47, XXY (18/100 patients: 18%) had clinical signs or a complete picture mentioning Klinefelter syndrome. Aneuploidy 47, XYY was identified in three patients with the oligoasthénospermia (Figure 2). The Robertsonian translocations 45,XY,der (13)(14) (Figure 3) and reciprocal translocation 46, XY t(3q-10q) (Figure 4) explain oligozoospermia and oligoasthenoteratospermia. These findings are in accordance with those from other surveys and confirm that the XXY aneuploidy is the most frequent chromosomal abnormality in azoospermic individuals. The correlation is established between the karyotypic abnormalities and sperm characteristics. A review of the literature of somatic chromosome investigations in infertile males has shown that 10-15% of azoospermic males and 4-5% of oligozoospermic males have an abnormal karyotype. In the first group, sex chromosome abnormalities predominate (mainly 47,XXY), whereas in the latter, autosome anomalies (i.e. Robertsonian and reciprocal translocations) are the most frequent. However, the prevalence of somatic chromosomal abnormalities in male sterile population has been reported and varies in different studies and populations. For example, the prevalence of chromosomal abnormalities in Dutch or Italian infertile population is respectively 3.1% and 3.95 (4). In Iran, cases with an abnormal karyotype were 13.96% (5). The frequency of chromosome abnormalities appears higher in some Ammar-Khodja et al 836 Iranian Journal of Reproductive Medicine Vol. 12. No. 12. pp: 835-836, December 2014 countries. Thus, this frequency in infertile men from western Mexico and eastern Turkey is respectively 18.9% and 23.26% (6, 7). In Estonia, total chromosome alterations were revealed in 47.8% of infertile men (8). Interestingly, our present study shows a higher percentage of chromosomal abnormalities (24%) in comparison with previous reports where the range was between 10 and 15% (9). These frequency variations can be explained by the choice of recruitment criteria based on the results of spermiograms (azoospermia or severe oligospermia: concentration sperm cells <5×106 ml). The abnormal gonosome number (XXY) in patients with azoospermia was higher than in patients with severe oligozoospermia. Our results confirm the data of different literature sources that certify that sex chromosome abnormalities are the privilege of azoospermia. Indeed Klinefelterchr('39')s syndrome in its homogeneous form (47, XXY) representing the most common aneuploidy (85.7%: 18/21). 47,XYY is a sex chromosomal abnormality observed in humans, with a prevalence of 0.1% of male births. This abnormality can be characterized by oligoasthenoszoospermia and it’s relatively uncommon and can miss clinically because of its variable clinical presentations (10). Our study reported a higher percentage of 3%. The reciprocal translocations are the most frequent structural chromosomal anomalies in oligozoospermia). In our study, two patients with Robertsonian translocation 45, XY, der (13)(14) were suffering from oligospermia. The balanced translocation 46, XY t(3q)(10q) has been identified in one patient with oligoasthenozoospermia. Acknowledgments We thank the Pr Guichaoua (Department of Reproductive Biology: Conception Hospital, Marseille), the Dr. Zerouala (Private Clinic Algiers), the clinic personnel and the patients involved in this research. We thank Dr. Farid Cherbal for reading the manuscript.
Asiyeh Moshtaghi, Hamidreza Vaziri, Reyhaneh Sariri, Hoorieh Shaigan,
Volume 15, Issue 8 (9-2017)

Background: Blighted ovum is one of the most common reasons for abortion during the first three months of pregnancy. Manganese superoxide dismutase (MnSOD) is an important antioxidant enzyme in the human immune system. The gene is located on 6q25 chromosome and acts on mitochondrial matrix. In the case of mutation or inactivity of this enzyme, mitochondrial and nuclear DNA will severely be destructed. The most common polymorphism of its gene is Val16Ala.
Objective: The aim was to investigate a possible mutation in pregnant women who had abortion during the first trimester of pregnancy due to blighted ovum.
Materials and Methods: In this case-control study, 34 women were entered as the case and control groups, respectively. Genome DNA was extracted from saliva samples and its genotype was determined using Tetra-primer amplification refractory mutation system polymerase chain reaction technique.
Results: In the case group, 16 (48%) cases had Val/Val genotype, 17 (50%) were heterozygote and had Val/Ala genotype, and 1 (2%) had Ala/Ala genotype. Among controls, 7 (22%) items had Val/Val genotype, 6 (17%) had Val/Ala genotype, and 21 (61%) had Ala/Ala genotype. The frequency of TT, CT, and CC genotypes was 48%, 50%, and 2% in case group and 22%, 17%, and 61% in control group, respectively. Statistical analysis revealed a significant relationship between Val16Ala polymorphism of MnSOD gene and blighted ovum (p= 0.0003).
Conclusion: It has concluded that a significant relationship exists between Val16Ala polymorphism of MnSOD gene and blighted ovum.
Masoud Dehghan Tezerjani, Seyed Mehdi Kalantar,
Volume 18, Issue 11 (11-2020)

Recent advances in human transcriptome have revealed the fundamental and functional roles of long non-coding RNA in the susceptibility to diverse diseases and pathological conditions. They participate in wide range of biological processes such as the modulating of chromatin structure, transcription, translation, and post-translation modification. In addition, based on their unique expression profiles and their association with clinical abnormalities such as those of related to male reproductive diseases, they can be used to develop therapeutic methods and biomarkers for screening of the diseases. In this study, we will review the identified lncRNAs and their molecular functions in the pathogenesis of male reproductive diseases such as prostate cancer, benign prostatic hyperplasia, prostatitis, testicular cancer, varicocele, and sperm abnormalities.
Homeira Vafaei, Khatoon Rafeei, Maryam Dalili, Nasrin Asadi, Nosaibe Seirfar, Mojgan Akbarzadeh-Jahromi,
Volume 19, Issue 5 (5-2021)

Background: Single umbilical artery (SUA) is found in 0.5-6% of all pregnancies, worldwide. Although the association of SUA with some of congenital malformations is mainly accepted, its effect on pregnancy/neonatal outcomes is still controversial.
Objective: This is the first study aimed to approximate the SUA prevalence in southern part of Iran. SUA epidemiologic features accompanied by some of its effects on pregnancy/neonatal outcomes are investigated as well.
Materials and Methods: In this cross-sectional study, data from two referral centers in Southern Iran were analyzed. In total, 1,469 pregnancies, fetus, and neonates were examined for epidemiological features associated with SUA. SUA was confirmed by pathological examination, while congenital anomalies were diagnosed by clinical, ultrasound, and echocardiographical examinations. Data on pregnancy outcome were recorded based on the patients’ medical records.
Results: The prevalence of SUA was 3.47% (95% CI: 2.6-4.6%). Fetal anomalies including renal, cardiac, and other congenital anomalies, intrauterine fetal death, early neonatal death, low birth weight, low placental weight, and preterm birth were significantly higher in the SUA group (OR = 68.02, 31.04, 16.03, 3.85, 11.31, 3.22, 2.70, and 2.47, respectively). However, the maternal multiparity was lower in the SUA group (OR = 0.65; 95% CI: 0.44-0.98).
Conclusion: A significant association was observed between SUA and increased risk of intrauterine fetal death and early neonatal death, as well as low birth weight and preterm birth. Obstetrical history of the mother like parity was identified as an important predictor of SUA. Further investigations are suggested on risk stratification of neonates in this regard.  

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