Cytogenetic Investigations in Amenorrhea Disorders
Summary
Amenorrhoea, defined as the absence of menstruation by age 16 in the presence of secondary sexual characteristics or by age 14 when such characteristics are lacking, affects a significant proportion of reproductive-age women worldwide. Cytogenetic investigations play a central role in elucidating the genetic and chromosomal underpinnings of both primary and secondary amenorrhoea. Standard karyotyping, based on G-banding techniques, remains the cornerstone for identifying numerical and structural abnormalities of the sex chromosomes, including monosomy X, isochromosomes, ring chromosomes, deletions and translocations. Molecular cytogenetic methods, such as fluorescence in situ hybridisation and array comparative genomic hybridisation, further refine the detection of submicroscopic rearrangements and mosaic cell lines. Together, these approaches inform clinical management by guiding hormone replacement strategies, surgical decisions and fertility counselling. Early referral for cytogenetic analysis not only shortens the diagnostic odyssey but also enables personalised therapeutic and reproductive planning, with implications for patient quality of life and long-term health outcomes.
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Cytogenetic Investigations in Amenorrhea Disorders publication trend
The graph below shows the total number of articles in cytogenetic investigations in amenorrhea disorders across all publications each year (not limited to Nature Index journals).
Technical terms
Amenorrhoea: The absence of menstrual periods by age 16 with normal secondary sexual development, or by age 14 without such development.
Cytogenetic analysis: Laboratory methods for examining the number and structure of chromosomes in cells, often using G-banding or molecular hybridisation.
Karyotype: A visual profile of an individual’s chromosomes, arranged by size and shape, used to detect numerical and structural anomalies.
Aneuploidy: A deviation from the normal chromosome number, such as monosomy (loss) or trisomy (gain) of a chromosome.
Mosaicism: The presence of two or more genetically distinct cell lines in one individual, resulting from postzygotic chromosomal errors.
References
- Primary amenorrhoea - cytogenetic study in 40 Indian women. Journal of Obstetrics and Gynaecology (2024).
- Cytogenetic screening of chromosomal abnormalities and genetic analysis of FSH receptor Ala307Thr and Ser680Asn genes in amenorrheic patients. PeerJ (2023).
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