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Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study
- Source :
- São Paulo Medical Journal, Vol 141, Iss 5 (2023)
- Publication Year :
- 2023
- Publisher :
- Associação Paulista de Medicina, 2023.
-
Abstract
- ABSTRACT BACKGROUND: Chromosomal abnormalities (CAs) have been described in patients with secondary amenorrhea (SA). However, studies on this association are scarce. OBJECTIVES: To evaluate the frequency and types of CAs detected by karyotyping in patients with SA. DESIGN AND SETTING: This retrospective study was performed in a reference clinical genetic service in South Brazil. METHODS: Data 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. RESULTS: Among 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). CONCLUSIONS: CAs 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.
Details
- Language :
- English
- ISSN :
- 18069460 and 15163180
- Volume :
- 141
- Issue :
- 5
- Database :
- Directory of Open Access Journals
- Journal :
- São Paulo Medical Journal
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.845724c6cd134c23a18b02eb38842a63
- Document Type :
- article
- Full Text :
- https://doi.org/10.1590/1516-3180.2022.0426.r1.14012023