Study of common chromosomal abnormalities and Plasminogen activator Inhibitor(PAI-1) gene Polymorphism (5G/4G) and Prothrombin (F2)gene mutation(G20210A) in women with recurrent abortions in the North West of Iran

Background. Parental chromosomal abnormalities as well as changes in genes encoding thrombophilic factors are common causes of recurrent abortions. One of the causes of thrombophilia is Factor II (F2) gene mutation (G20210A) and plasminogen activator inhibitor gene (PAI-1) polymorphism (4G/5G). Therefore, the present study aimed to investigate the frequency of chromosomal abnormalities and the association of thrombophilic gene polymorphisms in patients with abortion in northwestern Iran. Methods. In the present case-control study, cytogenetic analysis of 60 couples with a history of recurrent abortions was performed by the standard 72-hour culture of lymphocytes and G-banding. The polymorphism (5G/4G) of PAI-1 gene and the mutation (G20210A) of F2 genes were evaluated using RFLP-PCR and ARMS-PCR molecular methods, respectively. The obtained data were analyzed using statistical software. Results. No significant abnormalities affecting abortion were observed in cytogenetic studies; in the molecular study, the frequency of the 4G allele in patients and control groups were 54.2% and 33.3%, respectively; the frequency of 5G allele in the patients and control groups were 45.8% and 66.8%, respectively. The frequency of 5G/5G and 4G/5G genotypes is 25.0% and 41.6% in the patient group, and 55.0% and 23.3% in the control group, respectively. Also, the frequency of 4G/4G genotype in patients and controls were 33.3% and 21.6%, respectively. Conclusion. The results of this study show that there is a significant relationship between the frequency of the 4G allele of the PAI-1 gene with susceptibility to recurrent abortions in northwestern women, while no was relationship between F2 gene mutation and recurrent abortions was observed.

Atypical genotype in a typical phenotype

Introduction: Usually, onset of thelarche heralds puberty. Delayed puberty is worrisome and needs medical attention. Our patient in her late adolescence presented with primary amenorrhea, whose evaluation left us surprised. Case report: An eighteen-year-old scholastically backward girl, presented with complaints of not attaining menarche. Physical examination included a height of 156 cm(10th-25thcentile),weight 51 kg(50th centile), wide carrying angle, multiple nevi and a broad chest, however no other Turner stigmata was noted. Her sexual maturity rating (SMR) was A2P2B1 Laboratory investigations revealed increased gonadotropins (FSH:77mIU/ml; LH:25.4mIU/ml), low estradiol (14 pg/ml) and vitamin-D deficiency (21ng/ml). Ultrasonography of abdomen-pelvis showed small infantile uterus with streak ovaries. Karyotype (50 metaphases) demonstrated mosaicism [47,XXX (29)/45,X(19)/46,XX(2)]. Hormone replacement therapy and vitamin D replacement was initiated. Conclusion: 30-40% of the Turner syndrome are mosaics, the most common being 45,X/46,XX. Mosaicism is the presence of 2 or more cell lines with different chromosomal constitutions. The cell lines are derived due mostly to postzygotic mitotic nondisjunction. X/XX/XXX can present with or without classical turner stigmata. Trisomy X has a spectrum of presentation from normal menses and fertility to recurrent abortions and primary/secondary amenorrhea (primary ovarian insufficiency). Varied clinical phenotype due to three cell lines in a Turner mosaic makes this case unique.

Successful Outcome Following Hysteroscopic Septoplasty in a Woman with Seven Consecutive Pregnancy Losses

Anomalies of the reproductive tract are common and present in about 3%–5% of the general population and in about 3% of infertile women. In general, they are asymptomatic, but they can also be associated with recurrent abortions or infertility. This is the case of a 27-year-old nulliparous woman presenting with the history of seven consecutive first trimester spontaneous abortions. Since her marriage 10 years back she conceived on repeated times but all the pregnancies ended in spontaneous miscarriage at around 10–12 weeks. Hysterosalpingography revealed a bicornuate/septate uterus. Hysteroscopic septoplasty with concurrent laparoscopy was planned after normalization of the endocrine parameters. She conceived spontaneously 7 months after the surgery. She had luteal phase support with progesterone, cervical cerclage and management of gestational diabetes, and pregnancy-induced hypertension. At 37 weeks of gestation, elective caesarean section was done with the delivery of a healthy female baby.

Atypical genotype in a typical phenotype

Introduction: Usually, onset of thelarche heralds puberty. Delayed puberty is worrisome and needs medical attention. Our patient in her late adolescence presented with primary amenorrhea, whose evaluation left us surprised. Case report: An eighteen-year-old scholastically backward girl, presented with complaints of not attaining menarche. Physical examination included a height of 156 cm(10th-25thcentile),weight 51 kg(50th centile), wide carrying angle, multiple nevi and a broad chest, however no other Turner stigmata was noted. Her sexual maturity rating (SMR) was A2P2B1 Laboratory investigations revealed increased gonadotropins (FSH:77mIU/ml; LH:25.4mIU/ml), low estradiol (14 pg/ml) and vitamin-D deficiency (21ng/ml). Ultrasonography of abdomen-pelvis showed small infantile uterus with streak ovaries. Karyotype (50 metaphases) demonstrated mosaicism [47,XXX (29)/45,X(19)/46,XX(2)]. Hormone replacement therapy and vitamin D replacement was initiated. Conclusion: 30-40% of the Turner syndrome are mosaics, the most common being 45,X/46,XX. Mosaicism is the presence of 2 or more cell lines with different chromosomal constitutions. The cell lines are derived due mostly to postzygotic mitotic nondisjunction. X/XX/XXX can present with or without classical turner stigmata. Trisomy X has a spectrum of presentation from normal menses and fertility to recurrent abortions and primary/secondary amenorrhea (primary ovarian insufficiency). Varied clinical phenotype due to three cell lines in a Turner mosaic makes this case unique.

Syphilis and pregnancy: Review

Syphilis is a disease that has not been eradicated in part due to inadequate management of antibiotic therapy which is selected according to the stage of the disease and to the misuse of the type of penicillin. Treatment of this disease should be done to prevent it´s chronic complications, to avoid infecting sexual partners and the fetus in a pregnant woman. Syphilis in pregnancy causes increase in the rate of recurrent abortions and neonatal morbidity and mortality, that´s the main reason why early detection and treatment without delay is extremely important. Pregnancy alters immunity, so the serological diagnosis can provide false positives, with the use of inverse algorithms these results may decrease, by increasing the sensitivity of the tests. Today, after 69 years since the advent of penicillin, it has become the drug of choice for any stage of syphilis and in pregnant women; if the patient has allergy, desensitization is indicated either orally or intravenously and other antibiotic shouldn´t be used because of the security offered by penicillin in the cure rate and in the reduction of congenital syphilis. Keywords: Syphilis; Pregnancy; Inverse algorithms.

Study of various intrauterine pathologies by hysteroscopy leading to various gynaecological problems

Background: This study was to diagnose different types of intrauterine pathologies, their locations and relations with clinical presentations (like abnormal uterine bleeding (AUB), recurrent abortions, unexplained infertility and secondary dysmenorrhoea) by hysteroscopy. To know the prevalence and identification of the demographic relations of different intrauterine pathologies and clinical symptoms were observed. This study also aimed in selecting OPD or indoor operative procedure.Methods: Data collection of 144 cases was done with suspicion of intrauterine pathology on the basis of history and clinical examination. They were screened by per abdomen, per speculum, pelvic examination. USG and HSG in cases of infertility were used. Further intrauterine pathologies were explored by hysteroscopyResults: On hysteroscopy no abnormality was detected in 80/144 (55.6%) cases which was the maximum finding observed. AUB 96 (66.7%) was the most common presenting complaint followed by infertility 39 (27.1%). In 96 cases there was no organic pathology. Thickened endometrium was the commonest 17/144 (11.8%) pathology observed by hysteroscopy followed by endometrial polyp 14/144 (9.7%).Conclusions: With increasing demands for one-stop clinics where diagnosis and treatment are offered in same sitting. Diagnostic hysteroscopy by virtue of its diagnostic and therapeutic capabilities can become the procedure of first choice in evaluation of gynaecological problems.

The Expression of miR-31 and its Target Gene FOXP3 in Recurrent Implantation Failure Patients

Objectives: Endometrial receptivity is a complex event that occurs during the midluteal phase of the menstrual cycle known as the "window of implantation". During this period, the endometrium develops characteristics that allow the adhesion and invasion of the embryo to the uterine epithelium. Accordingly, the expressions of miR-31 and its target gene were evaluated to study the effect of miR-31 on FOPX3 gene expression in recurrent implantation failure (RIF) patients and normal fertile women. More precisely, the aim of this study was to understand the expression of miR-31 as one of the important regulators of the FOXP3 gene in the endometrium of RIF patients versus receptive endometria from fertile patients. Materials and Methods: This case-control study was conducted on 20 endometrial tissue samples of normal fertile women and RIF patients in order to evaluate miR-31 and its target gene expression. Results: According to the results of this study, a significant difference existed between RIF patients and normal fertile women (control group). The expression of the FOXP3 gene was more significant in the control group. miR-31 was also significantly expressed, which was due to the endometrial immunological disorder leading to the decreased expression of its target gene (FOXP3). Conclusions: In general, implant abnormalities and recurrent abortions were observed in RIF patients due to the decreased expression of the FOXP3 gene resulting from the inhibitory effects of miR-31.

RECIPROCAL TRANSLOCATION t (6; 8) (q25-27; q23): CASE REPORT

Reciprocal translocations are the most common structural chromosomal abnormalities in humans. In this study, the results of cytogenetic analysis performed on a couple with a reproductive history of three abortions and one intrauterine death referred to our laboratory are presented. Normal karyotype (46, XY) in male and reciprocal translocation 46XX t (6; 8) (q25-27; q23) in female were determined. In about 4% of couples with recurrent miscarriages, one of the parents is either a balanced reciprocal translocation or a robertsonian translocation carrier. Therefore, cytogenetic analysis should be recommended to couples with recurrent miscarriages. Keywords: Recurrent Abortions, Fetal Wastage, Reciprocal Translocation

Cervical insufficiency: a noteworthy disease with controversies

Cervical insufficiency (CI) is a mainly disease leading to recurrent abortions and preterm birth which may present in about 1% of obstetric populations. Recurrent pregnancy losses caused by CI incur serious economic burdens on society as well as huge psychological burdens to family members. However, many patients even clinicians in some areas of the world still remain confused about this disease. At the same time, the etiology of CI is still uncertain and it is still a controversial disease in diagnosis and treatment. This article summarizes the potential risk factors associated with CI, which could be worthy of attention and helpful for future research. It also reviews the methods for diagnosis and treatment of CI to better understand this noteworthy disease, as well as presents the related consensus and controversies according to the newly updated guidelines, which has practical significance for conducting more in-depth investigations in the future.