The present study was carried out to establish the correlation between phenotype and karyotype  of patients with  primary amenorrhea  of North Kerala.

Study settings and design

Across sectional study of 190 phenotypicfemales within the age group of 14 to 35 years with a  history of primary  amenorrhea were included in the study. The study was conducted over a period of three years

Methods :

Peripheral blood lymphocyte cultures were set for each patient according to standard protocol and chromosomal analysis was carried out with the aid of CytovisionSoftware Version 7.


Theresults of the present study showthat the incidence  of chromosomal abnormalities in primary amenorrhoeacases of North Kerala is 21.1% .78.9% patients had 46XX karyotype.Wealsoreport one unique chromosomal anomaly- 46,X,t(X;4)(q22.1;p15.3)


The results of the present study indicate that in all phenotypic females with primary amenorrhea, after excluding non genetic causes,karyotyping should be done for the precise diagnosis,management, prevention of complications in the future and counseling.


Primary amenorrhea, Structuralanomalies of X chromosome, Noonan Syndrome, 17-alpha hydroxylase deficiency

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