ArticleSao Paulo medical journal = Revista paulista de medicina2023
Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study.
Article in Sao Paulo medical journal = Revista paulista de medicina, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 0 citations in OpenAlex.
- Cytogenetic Evaluation and Clinical Correlation: A Retrospective Analysis of East Indian Patients with Diverse Amenorrhea Profiles.Journal of reproduction & infertilityArticle
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7 authors at 1 institution in 2 countries.
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Abstract
backgroundChromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce.
objectivesTo evaluate the frequency and types of CAs detected by karyotyping in patients with SA. DESIGN AND
settingThis retrospective study was performed in a reference clinical genetic service in South Brazil.
methodsData were obtained from the medical records of patients with SA who were evaluated between 1975 and 2022. Fisher's bicaudate exact test and Student's t-test were used, and P < 0.05 was considered significant.
resultsAmong 43 patients with SA, 14 (32.6%) had CAs, namely del (Xq) (n = 3), 45,X (n = 2), 46,X,r(X)/45,X (n = 2), 46,XX/45,X (n = 1), 46,X,i(q10)/45,X (n = 1), 47,XXX (n = 1), 46,XX/47,XXX (n = 1), 46,XX/47,XX,+mar (n = 1), 45,XX,trob(13;14)(q10;q10)/46,XXX,trob(13;14)(q10;q10) (n = 1), and 46,XX,t(2;21)(q23;q11.2) (n = 1). Additional findings were observed mostly among patients with CA compared with those without CA (P = 0.0021). No difference in the mean age was observed between the patients with SA with or without CAs (P = 0.268025).
conclusionsCAs are common among patients with SA, especially those with short stature and additional findings. They are predominantly structural, involve the X chromosome in a mosaic, and are compatible with the Turner syndrome. Patients with SA, even if isolated, may have CAs, particularly del (Xq) and triple X.
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