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

Management of a pregnancy with Crigler-Najjar syndrome type 2: a case report

Objective: To report a case with Crigler-Najjar syndrome type 2 of elevated bilirubin levels who was treated with triple therapy. Case(s): Crigler-Najjar syndrome is a rare congenital disorder that causes non-obstructive non-hemolytic unconjugated jaundice. The syndrome is divided into two groups according to the severity and the clinical presentation of the disease. In these cases, there is an elevated risk of antenatal death or permanent neurological impairment of the fetus due to fetal kernicterus caused by excessively increased unconjugated bilirubin levels. Phototherapy, phenobarbital and plasmapheresis can be useful in reducing serum total bilirubin concentrations, thus adverse maternal and neonatal risks. Conclusion: At her 37 weeks of gestation, the patient delivered a healthy girl. No pathological neurological findings were found and the baby had normal growth with intact neurological development