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The Journal of Obstetrics and Gynecology of India
Published in: The Journal of Obstetrics and Gynecology of India 5/2019

01-10-2019 | Chromosomal Abnormality | Original Article

Specific Chromosomal Aberrations in Primary Amenorrhoea: Study on 3776 Cases from Indian Population

Authors: Neeraja T. Koppaka, Shital K. Virulkar, Deepak S. Chavan, Rupa C. Dalvi, Neelam Gupta, Swarna Mandava

Published in: The Journal of Obstetrics and Gynecology of India | Issue 5/2019

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Abstract

Objective

To verify the prevalence of chromosomal abnormalities in women with primary amenorrhoea in India aiming at appropriate genetic counselling.

Methods

In a 16-year retrospective (2001–2016) study, 3776 women with primary amenorrhoea were evaluated. Chromosomal analysis of all the cases was done by GTG banding. Clinical history and other laboratory findings were taken into consideration to determine the diagnosis.

Results

The karyotype results revealed 31.2% cases with chromosomal abnormalities (n = 1177/3776). In patients with abnormal chromosome complement, 31.2% exhibited numerical aberrations (n = 367) and 34.9% with structural aberrations (n = 411). About 33.9% of cases were with XY male karyotype (n = 399).

Conclusion

As per the literature till date, this study is the largest with high incidence of chromosomal abnormalities; early detection of abnormalities is necessary for guidance to reproductive management and genetic counselling.
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Metadata
Title
Specific Chromosomal Aberrations in Primary Amenorrhoea: Study on 3776 Cases from Indian Population
Authors
Neeraja T. Koppaka
Shital K. Virulkar
Deepak S. Chavan
Rupa C. Dalvi
Neelam Gupta
Swarna Mandava
Publication date
01-10-2019
Publisher
Springer India
Published in
The Journal of Obstetrics and Gynecology of India / Issue 5/2019
Print ISSN: 0971-9202
Electronic ISSN: 0975-6434
DOI
https://doi.org/10.1007/s13224-019-01209-3

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