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

  • Neeraja T. Koppaka
  • Shital K. Virulkar
  • Deepak S. Chavan
  • Rupa C. Dalvi
  • Neelam Gupta
  • Swarna MandavaEmail author
Original Article



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


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.


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).


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.


Primary amenorrhoea Mosaicism Autosome–autosome translocations Balanced translocations Genetic counselling 



The authors are grateful to the management of SRL Diagnostics for providing the necessary infrastructure facilities.

Compliance with Ethical Standards

Conflict of interest

All authors declare that they have no conflict of interest.

Ethical Approval

This study has been approved by the SRL Ethical Committee.


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Copyright information

© Federation of Obstetric & Gynecological Societies of India 2019

Authors and Affiliations

  • Neeraja T. Koppaka
    • 1
  • Shital K. Virulkar
    • 2
  • Deepak S. Chavan
    • 1
  • Rupa C. Dalvi
    • 1
  • Neelam Gupta
    • 1
  • Swarna Mandava
    • 1
    Email author
  1. 1.Cytogenetics DivisionSRL DiagnosticsMumbaiIndia
  2. 2.Genetics UnitKokilaben HospitalMumbaiIndia

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