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Updated: Aug 11, 2026
07:42
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
Cytogenetic study of primary amenorrhoea
1Demonstrator of Pathology, Medical College, Calcutta.
Journal of the Indian Medical Association
|August 1, 1995
Summary
Chromosomal abnormalities are common in primary amenorrhea, with 45,X/46,XX mosaicism and 45,X Turner syndrome being the most frequent. Many Turner syndrome cases lack classical stigmata, highlighting the need for genetic testing.
Area of Science:
- Genetics
- Reproductive Medicine
- Endocrinology
Background:
- Primary amenorrhea affects women of reproductive age.
- Chromosomal abnormalities are a significant cause of primary amenorrhea.
- Early detection of chromosomal abnormalities is crucial for management.
Purpose of the Study:
- To determine the incidence of chromosomal abnormalities in primary amenorrhea.
- To identify cases of Turner syndrome and Turner mosaics lacking typical stigmata.
- To investigate chromosomal patterns in primary amenorrhea patients.
Main Methods:
- Karyotyping was performed on 60 primary amenorrhea cases.
- Buccal smears were used for sex chromatin analysis.
- Leukocyte culture method was employed for karyotyping.
Main Results:
- 63.3% of cases exhibited chromosomal incompetence.
- 45,X/46,XX mosaicism (33.3%) was the most prevalent abnormality.
- 26.6% had 45,X Turner syndrome, with only 43.7% showing classical stigmata.
- Two cases of complete testicular feminization (46,XY) were identified.
Conclusions:
- Chromosomal abnormalities are highly prevalent in primary amenorrhea.
- Turner syndrome may present without classical stigmata, necessitating genetic evaluation.
- Genetic analysis is essential for diagnosing primary amenorrhea and guiding treatment.
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