ArticleJournal of human reproductive sciences
A Study on Chromosomal Analysis of Patients with Primary Amenorrhea.
Article in Journal of human reproductive sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 17 citations in OpenAlex.
- Spectrum of constitutional chromosomal disorders: A five-year retrospective analysis from a tertiary care center in Karachi.Pakistan journal of medical sciences · 2026Article
- Frequency, clinical presentation and management of primary amenorrhea in a tertiary care setting.Pakistan journal of medical sciences · 2024Article
- Retrospective Analysis of Effective Management Strategies for Primary Amenorrhea of Reproductive Age in Saudi Arabia.Life (Basel, Switzerland) · 2024Article
- Investigation of the Frequency and Type of Chromosomal Abnormalities in Women Patients with Amenorrhea.Reports of biochemistry & molecular biology · 2022Article
- Cytogenetic Study of Patients with Primary Amenorrhea in the Northeast of Iran.Iranian journal of pathology · 2021Article
- Cytogenetic Studies in Primary Amenorrhoea Cases.Journal of human reproductive sciencesArticle
- Cytogenetic Evaluation and Clinical Correlation: A Retrospective Analysis of East Indian Patients with Diverse Amenorrhea Profiles.Journal of reproduction & infertilityArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary 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.
aimsThe 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
designOne 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.
resultsOut 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.
conclusionThis 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.
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