A study on chromosomal analysis of patients with primary amenorrhea
Background: Primary amenorrhea is one of the most common disorders seen as gynecological problems in adolescent girls. It refers to the participants who did not attain menarche by the age of 11–15 years. Chromosome abnormalities contribute as one of the etiological factors in patients with primary a...
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Wolters Kluwer Medknow Publications
2019-01-01
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doaj-10230df37440473aa5b9b9ddc63890fc2020-11-25T01:14:55ZengWolters Kluwer Medknow PublicationsJournal of Human Reproductive Sciences0974-12081998-47662019-01-01121293410.4103/jhrs.JHRS_125_17A study on chromosomal analysis of patients with primary amenorrheaAsoke K PalPrafulla S AmbulkarBharat R SontakkeShweta S TalharPradeep BokariyaVijay K GujarBackground: Primary amenorrhea is one of the most common disorders seen as gynecological problems in adolescent girls. It refers to the participants who did not attain menarche by the age of 11–15 years. Chromosome abnormalities contribute as one of the etiological factors in patients with primary amenorrhea. Aims: The aim of this study was to evaluate the frequency of chromosomal abnormalities and to investigate the abnormal karyotypes in patients referred with the symptom of primary amenorrhea for better management and counseling. Setting and Design: One hundred and seventy-four cases of primary amenorrhea were referred from the obstetrics and gynecology department to our cytogenetic laboratory for chromosomal analysis. G-banded chromosomes were karyotyped, and chromosomal analysis of all patients was done. Results: Out of 174 patients, we observed 23 (13.22%) participants with abnormal karyotype. In 23 cases of chromosomal abnormalities, 10 cases were sex reversal female (46,XY) and Turner karyotype (45,X) in 6 females. Other numerical and structural abnormalities were also seen such as 47,XXX; 45,X/47,XXX; 45,X/46, X,dic(X); 46,XX, inv (9); 45,X/46,X,i(Xq); 46,X,mar(X); and 45,X/46,XY in the primary amenorrhea cases. Conclusion: This study definitely attests the importance of chromosomal analysis in the etiologic diagnosis of primary amenorrhea patients. Karyotyping will help to counsel and manage the cases of primary amenorrhea in a better way. This study reveals the frequencies and different types of chromosomal abnormalities found in primary amenorrhea individuals and that might help to make the national database on primary amenorrhea in relation to chromosomal aberrations.http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2019;volume=12;issue=1;spage=29;epage=34;aulast=PalChromosomal abnormalitieskaryotypingprimary amenorrhea |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Asoke K Pal Prafulla S Ambulkar Bharat R Sontakke Shweta S Talhar Pradeep Bokariya Vijay K Gujar |
spellingShingle |
Asoke K Pal Prafulla S Ambulkar Bharat R Sontakke Shweta S Talhar Pradeep Bokariya Vijay K Gujar A study on chromosomal analysis of patients with primary amenorrhea Journal of Human Reproductive Sciences Chromosomal abnormalities karyotyping primary amenorrhea |
author_facet |
Asoke K Pal Prafulla S Ambulkar Bharat R Sontakke Shweta S Talhar Pradeep Bokariya Vijay K Gujar |
author_sort |
Asoke K Pal |
title |
A study on chromosomal analysis of patients with primary amenorrhea |
title_short |
A study on chromosomal analysis of patients with primary amenorrhea |
title_full |
A study on chromosomal analysis of patients with primary amenorrhea |
title_fullStr |
A study on chromosomal analysis of patients with primary amenorrhea |
title_full_unstemmed |
A study on chromosomal analysis of patients with primary amenorrhea |
title_sort |
study on chromosomal analysis of patients with primary amenorrhea |
publisher |
Wolters Kluwer Medknow Publications |
series |
Journal of Human Reproductive Sciences |
issn |
0974-1208 1998-4766 |
publishDate |
2019-01-01 |
description |
Background: Primary amenorrhea is one of the most common disorders seen as gynecological problems in adolescent girls. It refers to the participants who did not attain menarche by the age of 11–15 years. Chromosome abnormalities contribute as one of the etiological factors in patients with primary amenorrhea. Aims: The aim of this study was to evaluate the frequency of chromosomal abnormalities and to investigate the abnormal karyotypes in patients referred with the symptom of primary amenorrhea for better management and counseling. Setting and Design: One hundred and seventy-four cases of primary amenorrhea were referred from the obstetrics and gynecology department to our cytogenetic laboratory for chromosomal analysis. G-banded chromosomes were karyotyped, and chromosomal analysis of all patients was done. Results: Out of 174 patients, we observed 23 (13.22%) participants with abnormal karyotype. In 23 cases of chromosomal abnormalities, 10 cases were sex reversal female (46,XY) and Turner karyotype (45,X) in 6 females. Other numerical and structural abnormalities were also seen such as 47,XXX; 45,X/47,XXX; 45,X/46, X,dic(X); 46,XX, inv (9); 45,X/46,X,i(Xq); 46,X,mar(X); and 45,X/46,XY in the primary amenorrhea cases. Conclusion: This study definitely attests the importance of chromosomal analysis in the etiologic diagnosis of primary amenorrhea patients. Karyotyping will help to counsel and manage the cases of primary amenorrhea in a better way. This study reveals the frequencies and different types of chromosomal abnormalities found in primary amenorrhea individuals and that might help to make the national database on primary amenorrhea in relation to chromosomal aberrations. |
topic |
Chromosomal abnormalities karyotyping primary amenorrhea |
url |
http://www.jhrsonline.org/article.asp?issn=0974-1208;year=2019;volume=12;issue=1;spage=29;epage=34;aulast=Pal |
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