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Nr. 19(2)/2011
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Clinical and cytogenetic correlation in primary and secondary amenorrhea: retrospective study on 531 patients

Lăcramioara Butnariu, Mircea Covic, Iuliu Ivanov, Cornel Bujoran, Mihaela Gramescu, Eusebiu Vlad Gorduza


Abstract:

Primary amenorrhea (PA, absence of menarche) and secondary amenorrhea (SA, the cessation of menstruation in women who were previously menstruating), have many causes including hypothalamic and pituitary disorders, gonadal dysgenesis and utero-vaginal malformations. We performed a retrospective study, with the purpose of establishing the frequency and the type of chromosomal abnormalities, in 531 patients with PA and SA who were clinically and cytogenetically evaluated (1985-2009) in Iaşi Medical Genetics Center.Primary amenorrhea (PA) was identified in 493 (92.84%) patients. X chromatin test, used as a screening test, was abnormal in 201 cases (40.8%) and normal in 292 cases (59.2%). The karyotype was normal in 224 cases (45.43%) and abnormal in 269 (54.56%) patients; the most frequent abnormality detected was X chromosome monosomy, homogeneous (137 cases – 27.78%) or mosaic (80 cases – 16.22%). Other 22 cases (4.46%) had X chromosome structural unbalanced abnormalities (homogeneous or in mosaic). One particular group, represented by 23 patients with PA, had a Y chromosome cell line and the final diagnosis was: pure gonadal dysgenesis (8 cases), CAIS (6 cases), mixed gonadal dysgenesis (4 cases) and true hermaphroditism (5 cases). Other 7 patients presented X trisomy (4 cases) and structural chromosomal abnormalities (3 cases).Secondary amenorrhea (SA) was identified in 38 (7.15%) patients. The X chromatin test and karyotype was normal in 31 of cases (81.57%) and abnormal in 7 cases (18.42%) having X monosomy mosaics. Our results were similar with other reported studies and attest the importance of cytogenetic investigations in the etiologic diagnosis of amenorrhea.

Keywords: amenorrhea,karyotype,X chromatin test.

 
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How to cite
Butnariu L, Covic M, Ivanov I, Bujoran C, Gramescu M, Gorduza EV. Clinical and cytogenetic correlation in primary and secondary amenorrhea: retrospective study on 531 patients. Rev Romana Med Lab. 2011;19(2):149-60