• Marina da Rocha Besson, Mateus Dos Santos Taiarol, Eliaquim Beck Fernandes, Isadora Bueloni Ghiorzi, Maurício Rouvel Nunes, ZenPaulo Ricardo GazzolaPRG0000-0002-7628-4877PhD. Professor, Departments of Clinical Medicine and Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil., and RosaRafael Fabiano MachadoRFM0000-0003-1317-642XPhD. Professor, Departments of Clinical Medicine and Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil..
• BSc. Master´s Student, Postgraduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre (RS), Brazil.
• Sao Paulo Med J. 2023 Jan 1; 141 (5): e2022426e2022426.

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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