Cytogenetic evaluation of primary amenorrhea: a study of 100 cases at tertiary centre

Abstract

Background Amenorrhea is the absence of menstruation in women of reproductive age. The physiology of menstruation and reproduction has a strong correlation with the expression of the X chromosome. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. This study 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. Patients and methods Clinical features of 100 patients along with their hormonal profile and sonographic findings were recorded. Karyotyping was done after taking informed consent from the patients. Molecular cytogenetic technique was used to confirm marker chromosomes and ring chromosomes. Results 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. 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. Conclusion This study emphasizes the need for cytogenetic analysis as an integral part of the diagnostic protocol in the case of PA for precise identification of chromosomal abnormalities; and for appropriate reproductive management. Early detection of abnormalities is necessary for guidance to reproductive options and genetic counselling.

Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients

“…13.3% of patients evaluated with primary amenorrhea had an abnormal karyotype. Previous studies have reported that 12%–42% of patients with primary amenorrhea have abnormal karyotypes, and this may be due to differences in the selection criteria of the patients 13 . Primary amenorrhea can arise from endocrine disorders, structural and environmental factors, and genetics.…”

“…Previous studies have reported that 12%–42% of patients with primary amenorrhea have abnormal karyotypes, and this may be due to differences in the selection criteria of the patients. 13 Primary amenorrhea can arise from endocrine disorders, structural and environmental factors, and genetics. When exploring its genetic etiology, cytogenetic abnormalities, should not be neglected as a primary investigation.…”

“…Patients with chromosomal abnormalities that cause symptoms such as amenorrhea, recurrent pregnancy loss, and infertility can be diagnosed in the pubertal and post-pubertal period, which is usually the period when their complaints occur. [11][12][13] Many studies in the literature have revealed the incidence of prenatal chromosomal anomalies. [14][15][16][17][18][19] However, few studies have focused on postnatal chromosomal abnormalities.…”

“…The clinical consequences of some chromosomal anomalies may occur at later ages. Patients with chromosomal abnormalities that cause symptoms such as amenorrhea, recurrent pregnancy loss, and infertility can be diagnosed in the pubertal and post‐pubertal period, which is usually the period when their complaints occur 11–13 . Many studies in the literature have revealed the incidence of prenatal chromosomal anomalies 14–19 …”

Retrospective Analysis of Effective Management Strategies for Primary Amenorrhea of Reproductive Age in Saudi Arabia

“…Genetic factors are important, as seen in Turner syndrome, marked by a missing or incomplete X chromosome, and Androgen Insensitivity Syndrome (AIS), where individuals with XY chromosomes show reduced or absent response to androgens [ 3 , 4 , 5 ]. Furthermore, different chromosomal abnormalities could also play a role in primary amenorrhea, underscoring the intricate relationship between genetics and reproductive health [ 6 , 7 , 8 ]. Structural abnormalities of the reproductive tract that affect normal menstruation are also a significant factor due to anatomical causes [ 9 ].…”