Chromosomal abnormalities detected by karyotyping among patients with secondary amenorrhea: a retrospective study
São Paulo med. j
; São Paulo med. j;141(5): e2022426, 2023. tab
Article
en En
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LILACS-Express
| LILACS
| ID: biblio-1432461
Biblioteca responsable:
BR1.1
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 ANDSETTING:
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Tipo de estudio:
Observational_studies
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Risk_factors_studies
Idioma:
En
Revista:
Sao Paulo Med J
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São Paulo med. j
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São Paulo med. j. (Online)
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São Paulo medical journal (Impresso)
Asunto de la revista:
Cirurgia Geral
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Cincia
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Ginecologia
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MEDICINA
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Medicina Interna
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Obstetr¡cia
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Pediatria
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Sa£de Mental
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Sa£de P£blica
Año:
2023
Tipo del documento:
Article
País de afiliación:
Brasil