This affiliate aims to estimate the frequency and types of chromosomal anomalies in primary amenorrhoea (PA) cases in western India and correlate their hormonal description and sonographic findings accompanying chromosomal reports. Amenorrhea, the lack of menstrual periods, is the primary effect of consuming disorders on the reproductive order. It can be classified as basic or secondary, contingent upon the time of attack. Primary amenorrhea is a delay in menarche beyond the age of 16. Secondary amenorrhea happens when periods are absent for in addition 3 to 6 months in women who earlier menstruated regularly.One hundred (100) cases of basic amenorrhea were studied for cytogenetic study during the ending of 2014–2021. The age group of issues ranged from 12 to 36 years, and mean age was 20.5 age. Karyotyping was done subsequently taking cognizant consent from the patients. Molecular cytogenetic method was used to confirm marker chromosomes and ring chromosomes. Genetic determinants could be chromosomal or alone gene disorders or multifactorial. Recently, accompanying the advent of future generations sequencing, multiple genes have happened attributed to the cause of primary amenorrhea. However, in adulthood it is chromosomes and their abnormalities, providing to the constitutional etiology of amenorrhea. The results disclosed 89% of PA with common female karyotype (46,XX) and 11% with various abnormal karyotypes. Majority of females accompanying normal karyotype were bearing Mullerian defects and among bureaucracy most of them were classification under Rokitansky syndrome. The chromosomal abnormalities guide X and Y chromosomes have direct influence on stature and pubertal happening. Sexual development is the result of interaction of numerous genes on the X chromosome and metamorphosis in any of these genes can influence partial or complete failure of importance and pubertal development. Among the bizarre karyotype constituents, 27.3% mathematical abnormalities, all were Turner disease; pure and mosaic. Four cases (36.4%) presented male (XY) karyotype. The other four cases (36.4%) accompanied structural irregularities, among that three cases showed X-mixed structural abnormality and individual case showed equalized translocation.In order to correctly identify chromosomal anomalies and to ensure decent reproductive care in the case of PA, this study underlines the importance of cytogenetic study as a crucial component of the demonstrative approach. Genetic counseling and guidance on generative options believe the early diagnosis of anomalies.
Author(s) Details:
Kumari Pritti,
Department
of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre,
Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil
Hospital Campus, Asarwa, Ahmedabad-380016, India.
Vineet
Mishra,
Department
of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre,
Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil
Hospital Campus, Asarwa, Ahmedabad-380016, India.
Hetvi Patel,
Department of Obstetrics and Gynecology, Institute of Kidney
Diseases and Research Centre, Dr. H.L. Trivedi Institute of Transplantation
Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad-380016, India.
Kushani Patel,
Department of Obstetrics and Gynecology, Institute of Kidney
Diseases and Research Centre, Dr. H.L. Trivedi Institute of Transplantation
Sciences (IKDRC-ITS), Civil Hospital Campus, Asarwa, Ahmedabad-380016, India.
Rohina Aggarwal,
Department
of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre,
Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil
Hospital Campus, Asarwa, Ahmedabad-380016, India.
Sumesh
Choudhary,
Department
of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Centre,
Dr. H.L. Trivedi Institute of Transplantation Sciences (IKDRC-ITS), Civil
Hospital Campus, Asarwa, Ahmedabad-380016, India.
Please see the link here: https://stm.bookpi.org/CPMMR-V7/article/view/11590
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