Frequency and the Types of chromosomal abnormalities in patients with Primary Amenorrhea in Sudan
Hiba Satti ,Imad Fadl-Elmula , Lamis Beshir , Abdelbagi Alzain
Study objective: to detect the frequency and the type of chromosomal abnormalities in patients with primary Amenorrhea (PA)
Material and Methods:Chromosomal analysis was carried out for patients with primary amenorrhea who attended Elite genetics center or referred from other clinics in Khartoum, Sudan were retrospectively analyzed from 2017and 2018.
Results:The present study aimed at performing chromosomal analysis in patients presenting with primary amenorrhea (n=169) employing G banding. The karyotype results revealed that 50.3% (n=85) of the patients had normal karyotypes consistent with their female sex. 49.7% (n=84) showed abnormal karyotypes. Karyotype abnormalities were due to numerical aberration, structural abnormalities in the chromosomes or XY karyotypes inconsistent with the patients’ sex.
Conclusion : Chromosomal abnormalities are common causes of primary amenorrhea in Sudanese patients. The results of the present study imply the inclusion of chromosomal analysis and genetic counseling for all patients with PA for early diagnosis. Of 169 cases with PA, 85 patients had normal karyotypes which suggest that other causes at gene level need to be further explored beside chromosomal abnormalities.
Keywords: primary amenorrhea(PA), chromosomal abnormalities, karyotyping, cytogenetic study, turner syndrome, testicular feminization syndrome, triple X karyotype