Etiology and management of Primary Amenorrhea: A Cytogenetic Evaluation Study in Western India

This chapter aims to estimate the frequency and types of chromosomal abnormalities in primary amenorrhoea (PA) patients in western India and correlate their hormonal profile and sonographic findings with chromosomal reports. Amenorrhea, the lack of menstrual periods, is the primary effect of eating disorders on the reproductive system. It can be classified as primary or secondary, depending on the time of onset. Primary amenorrhea is a delay in menarche beyond the age of 16. Secondary amenorrhea occurs when periods are absent for more than 3 to 6 months in women who previously menstruated regularly.

One hundred (100) cases of primary amenorrhea were studied for cytogenetic analysis during the period of 2014–2021. The age group of subjects ranged from 12 to 36 years, and mean age was 20.5 years. Karyotyping was done after taking informed consent from the patients. Molecular cytogenetic technique was used to confirm marker chromosomes and ring chromosomes. Genetic factors could be chromosomal or single gene disorders or multifactorial. Recently, with the advent of next generation sequencing, multiple genes have been attributed to the cause of primary amenorrhea. However, in majority it is chromosomes and their abnormalities, contributing to the constitutional etiology of amenorrhea. The results revealed 89% of PA with normal female karyotype (46,XX) and 11% with different abnormal karyotypes. Majority of females with normal karyotype were having Mullerian defects and among them most of them were categorized under Rokitansky syndrome. The chromosomal abnormalities associated with X and Y chromosomes have direct influence on stature and pubertal development. Sexual development is the result of interplay of numerous genes on the X chromosome and mutation in any of these genes can result in partial or complete failure of stature and pubertal development. Among the abnormal karyotype constituents, 27.3% numerical abnormalities, all were Turner syndrome; pure and mosaic. Four cases (36.4%) showed male (XY) karyotype. The other four cases (36.4%) showed structural abnormalities, among which three cases showed X-associated structural abnormality and one case showed balanced translocation.

In order to accurately identify chromosomal abnormalities and to ensure proper reproductive care in the case of PA, this study underlines the importance of cytogenetic analysis as a crucial component of the diagnostic approach. Genetic counseling and guidance on reproductive options depend on the early diagnosis of anomalies.