Karyotype Evaluation in Patients with Premature Ovarian Failure

INTRODUCTION: Chromosome anomalies are one of the major causes of premature ovarian failure and the importance of chromosome analysis in reproductive management has been confirmed. Numerical and structural chromosome anomalies, especially structural anomalies of the X chromosome, X-autosome translocations and X-chromosome aneuploidies, are the chromosome anomalies most commonly described in the literature. In this study, we aimed to evaluate the frequency and type of chromosomal anomalies in the patients with premature ovarian failure admitted to our clinic and to discuss the findings in the light of current literature and to provide guidance to new studies. METHODS: The files of the patients, who were diagnosed with premature ovarian failure between 2002 and 2017, were screened from the archive of the division of reproductive endocrinology and infertility in the department of obstetrics and gynecology at our center. 65 patients were included in the study. Information about age, smoking, alcohol use, age at menarche and menapose, hormone replacement therapy usage, additional disease and obstetric history were obtained from files. The laboratory results of the patients were obtained from files. FSH, LH, estradiol, prolactin, TSH, fT3, fT4, Anti-TPO, Anti-TG, TRAB, cortisol, ANA, Insulin, fasting blood glucose, LDL, HDL, triglyceride, total cholesterol, anti-Mullerian hormone levels were recorded from files. The karyotype results were recorded from files. RESULTS: The mean age at diagnosis was 32.6 years.The mean body mass index was 23.4(kg/m²). 60(92.3%) had normal karyotype(46+XX). 5(7.7%) had abnormal karyotype(4 had 46+XX/45+X and 1 had 46+XY/45+X). The mean value of fT3 is significantly higher in cases with normal karyotype(p: 0.019). DISCUSSION AND CONCLUSION: Considering the high rate of X chromosome loss in patients with premature ovarian failure, we can say that premature ovarian failure manifests itself in a wide spectrum. In conclusion, it can be said that cytogenetic studies should be evaluated routinely in cases with premature ovarian failure regardless of age

Different Effects of Myoinositol plus Folic Acid versus Combined Oral Treatment on Androgen Levels in PCOS Women

Recently, myoinositol (myo-ins) and folic acid combination has gained an important role for treating Polycystic Ovary Syndrome (PCOS), in addition to combined oral contraceptives (COC). We aimed to examine myo-ins effects on anti-Mullerian hormone (AMH) levels and compare them with those ones obtained administering COC. In this prospective study, 137 PCOS patients, diagnosed according to Rotterdam criteria and admitted to the Reproductive Endocrinology and Infertility Outpatient Clinic at Dokuz Eylul University (Izmir, Turkey), were included. After randomization to COC (n=60) and myo-ins (n=77) arms, anthropometric measurements, blood pressure, Modified Ferriman Gallwey scores were calculated. Biochemical and hormonal analysis were performed, and LH/FSH and Apo B/A1 ratios were calculated. Data analysis was carried out in demographically and clinically matched 106 patients (COC = 54; myo-ins = 52). After 3-month treatment, increase in HDL and decreases in LH and LH/FSH ratio were statistically more significant only in COC group when compared with baseline (in both cases p>0.05). In myo-ins group, fasting glucose, LDL, DHEAS, total cholesterol, and prolactin levels decreased significantly (for all p<0.05). Progesterone and AMH levels, ovarian volume, ovarian antral follicle, and total antral follicle counts lessened significantly in both groups (for all p<0.05). In PCOS treatment, MYO is observed more effective in reductions of total ovarian volume and AMH levels

Fetal Circulatory Variation in an Acute Incident Causing Bradycardia

Umbilical artery\vein, middle cerebral artery, and ductus venosus Doppler velocimetry were performed at 33 weeks of gestation in the settings of an intrauterine growth restricted fetus during a heart rate deceleration. Interestingly, we recorded a sudden onset redistribution of fetal blood flow with fetal bradycardia. Spontaneous normalization of waveforms was observed once fetal heart rate returned to normal. Our case provides evidence to circulatory variation of a human fetus resulting from an acute incident causing bradycardia

Effect of mucinous differentiation in endometrioid type endometrial cancers on prognosis

Objectives: To evaluate the influence of mucinous differentiation in endometrioid endometrial cancer regarding spread and prognosis. Material and methods: Endometrioid endometrial cancer cases between 2015 and 2020 were collected retrospectively and divided into two groups according to the cytoplasmic mucin including. Prognostic factors and cancer spread related parameters were evaluated. Results: A total of 219 patients were enrolled in this study. One hundred twenty-two (55.7%) were endometrioid and 97 (44.3%) were in the mucinous differentiated endometrioid catagory. Age was similar between the groups (59.3 vs 58.7, p = 0.62), however, grade 3 lesions were more frequent in endometrioid type endometrial cancer (8.7% vs 1.4%, p &lt; 0.01). Poor prognostic factors including myometrial invasion, lymphovascular space invasion (LVSI), lymph node metastases, peritoneal cytology, endocervical involvement, and stage were not significantly different between groups (p = 0.23, p = 0.49, p = 0.40, p = 0.15, p = 0.17, p = 0.55). The median overall survival time of endometrioid and mucinous differentiated endometrioid type endometrial cancer patients was determined 88.5 and 96.8 months, respectively (p = 0.46). Conclusions: Mucinous differentiation in the endometrioid type of endometrial cancer does not seem to affect the prognosis in endometrioid endometrial cancer patients

Topography of the Heart: Mapping the Fetal Heart Through SlowflowHD.

SlowflowHD is a Doppler Ultrasound modality that is typically geared toward visualization of small-size vessels and low velocity blood flow. In this commentary, we emphasize the importance of implementing the use of SlowflowHD as an adjunct to traditional Doppler modalities in the echocardiography screening in both the first and second trimester. This modality carries many characteristics that allow it to overcome the limitations of our current ultrasound modalities and facilitate mapping of the entirety of the fetal heart. The clinical implications are significant in regard to earlier acquisition of diagnostic information to guide decision-making and patient counseling.</p

Do amniotic fluid leptin levels decrease in pregnancies with fetal trisomy 21?

The objective of this study was to find a possible correlation between Down syndrome and amniotic fluid leptin. We compared 2nd trimester amniotic fluid leptin levels of fetuses with normal karyotype and with trisomy 21. We retrospectively found 15 fetuses with Down syndrome and we randomly selected 48 fetuses with normal karyotype as controls from our perinatology record database, in order to analyse their 2nd trimester amniotic fluid leptin levels. Amniotic fluid leptin levels were analysed by enzyme-linked immunosorbent assay (ELISA). The results were evaluated by Mann-Whitney U test. It was found that amniotic fluid leptin levels did not show any significant difference between amniotic fluids of fetuses with normal karyotype and those with trisomy 21 (p = 0.061). Median level of leptin was 10.06 ng/ml (range 2.10-36.69) for trisomy 21 fetuses and 14.53 ng/ml (range 2.30-67.33) for normal fetuses. In conclusion, leptin levels were not found to change in the amniotic fluids of fetuses with trisomy 21. This excludes a possible involvement of leptin in pathogenic processes associated with trisomy 21 during the fetal period and its potential employment as a diagnostic tool

Fetal Circulatory Variation in an Acute Incident Causing Bradycardia

Umbilical artery\vein, middle cerebral artery, and ductus venosus Doppler velocimetry were performed at 33 weeks of gestation in the settings of an intrauterine growth restricted fetus during a heart rate deceleration. Interestingly, we recorded a sudden onset redistribution of fetal blood flow with fetal bradycardia. Spontaneous normalization of waveforms was observed once fetal heart rate returned to normal. Our case provides evidence to circulatory variation of a human fetus resulting from an acute incident causing bradycardia

Prenatal diagnosis of cystic hygroma cases in a tertiary centre and retrospective analysis of pregnancy results.

The aim of this study is to retrospectively examine invasive diagnostic methods, structural anomalies accompanying cystic hygroma, and pregnancy outcomes in cystic hygroma cases admitted to a tertiary centre. The population of the study consisted of 29 live foetuses with cystic hygroma in the foetal neck only in the first or second trimester. In the study, pregnant women who applied to our centre were included. Amniocentesis or chorionic villus sampling was performed for genetic analysis according to the weeks of the pregnant women who were diagnosed with cystic hygroma by ultrasound examination by two clinicians experienced in foetal anomaly. Of the pregnant women included in the study, 10 had normal karyotype, 12 had abnormal karyotype and 13 had structural abnormality. It is very important to provide genetic counselling to the families of foetuses with cystic hygroma with a multidisciplinary team approach consisting of neonatologists, paediatric surgeons and experienced sonographers