Amenorrhea is the absence of menstruation in women of reproductive age. Previous reports suggest that chromosomal abnormality is the second most common cause of amenorrhoea. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. This was an observational study which was conducted in Vivekananda Institute of Medical sciences, Kolkata, during January 2013-December 2015. This study aims to estimate the frequency and types of chromosomal abnormalities in primary amenorrhoea (PA) patients in Eastern India and correlate their hormonal profile with chromosomal reports. Clinical features of 150 patients were recorded with clinical expertise. Peripheral venous blood was taken following informed consent, followed by karyotyping for chromosomal analysis. Results revealed 76.1% of PA with normal female karyotype (46, XX) and 23.9% with different abnormal karyotypes. Among the abnormal karyotype constituents, 50% numerical abnormalities, most frequent being Turner syndrome, pure (n = 12, 8%) and mosaic (n = 5, 3.3%). Three cases (2%) showed male (XY) karyotype. The other cases showed X structural abnormalities. This study emphasises the need for cytogenetic analysis as integral part of the diagnostic protocol in case of PA for precise identification of chromosomal abnormalities and for appropriate management and counselling of these patients.

Purpose: To test the hypothesis that the coronary heart disease is associated with high serum homocysteine and low vitamin B-12, and folic acid concentrations. Methods: In this population-based case control study, 116 coronary artery diseases with appropriate ECG and/or Echo findings and 96 controls without abnormal ECG and/or Echo findings were selected as the study population. Results: The mean value of serum homocysteine levels of the cases (16.88 μ mol/L ± 10.84) was not significantly higher than the values of the control group (14.18 ± 4.19 μ mol/L) (p=0.02). The mean value of folic acid levels was lower both in male and female cases than that in controls but this difference was also not statistically significant (p= 0.51& 0.05).The mean B12 level also showing higher level in male and female cases but not significantly higher than those of their control group (p=0.48 & 0.62 ). Serum lipid profile [Total Cholesterol TCHL, Low density lipoproteins (LDL), High density lipoproteins (HDL), Triglyceride (TG)] was also found to be inadequate as a potential predictive risk factor in this particular population. Conclusion: These results do not support the hypothesis that coronary heart disease is related to high serum homocysteine concentration. The results are not conclusive due to inability to adequately control for potential confounders as well as inadequate sample size.

Aim This comprehensive review article aims to comprehend the frequency and prevalence of chromosomal abnormalities in both primary amenorrhea (PA) and secondary amenorrhea (SA) cases and correlating it with their phenotypes, clinical features and hormonal profiles. Methods Research publications on prevalence of chromosomal abnormalities in both PA and SA cases worldwide and its etiology, clinical features, hormonal profiles; their correlation with chromosomal profiles were searched for on the internet, including general search engines and respective scientific sites. Only published, relevant and authentic data conducted on phenotypically female patients were considered. Another aspect of amenorrhea occurs due to several clinical conditions apart from cytogenetic viewpoint were not considered or discussed in detail. Results As literature study suggests; considering various etiology of amenorrhea counting anatomic defect of the hypothalamus or genetic defect, and various acquired causes of chromosomal anomalies contribute to be one of the major etiologies of both PA and SA; ranging from 15.9% to 63.3% in case of PA and from 3.9% to 44.4% in case of SA. In spite of the presence of any other factors responsible condition, the genetic factors need to be emphasized, which might include single gene disorders or chromosomal disorders. Individuals with chromosomal anomalies reported a wide range of abnormalities in phenotypes, as well as in other clinical features and hormonal profiles. Conclusion This comprehensive review is the first structured review article that encompasses the cytogenetic profile of the amenorrhea cases and correlating it with their phenotypes, clinical features and hormonal profiles from Eastern India.

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This observation may indicate that stress cytogenetics analysis of phenotypically normal AA patients (≤50 years) is essential for the improvement of the treatment procedure.