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Genetic Abnormalities of Primary Amenorrhea in Women from South of Iraq | ||
| The Medical Journal of Basrah University | ||
| Article 3, Volume 42, Issue 1, June 2024, Pages 16-20 PDF (464.77 K) | ||
| Document Type: Research Paper | ||
| DOI: 10.33762/mjbu.2024.145705.1183 | ||
| Authors | ||
| Saad A. Al Omar1; Zinah Anas Salman2; Ahmed Kamal Kasim3 | ||
| 1department of Pathology, College of Medicine, University of Basrah, Basrah, Iraq. | ||
| 2Department of Pediatrics, Maternity and Pediatric General Hospital, Basrah Health Directorate | ||
| 3Department of Cytogenetics, Baghdad Teaching Laboratories, Medical City, Baghdad. | ||
| Abstract | ||
| Background: Genes and hormones play an important and complicated role in differentiating the gonads to the testis or ovary. Primary or secondary amenorrhea is either absence or unexpected early end of menstruation. Hormonal, physiological, environmental and genetic reasons are all involved in developing such a disorder. Diagnosis is very important to provide the required treatment and one of the powerful diagnostic goals is Karyotyping. Aim of study: So, the study aimed to identify the chromosomal abnormalities through karyotyping and how frequent each is. Methods: Samples of 174 patients who were referred to AlBayan Private Laboratory in Basrah City from 2018 to 2022 Results: A total of 174 patients were diagnosed with PA and the results showed that out of 174 patients, 57(30%) were diagnosed with chromosomal abnormalities using cytogenetics. Karyotype analysis showed that 46, XY represented more than 50% of the genetic abnormalities, followed by 27% and 3% due to 45, X or 46, X, i(Xq) respectively. However, all the rest abnormalities displayed the same percentage, 1% of the total number of PA patients. Our study showed that a significant number of cases with primary amenorrhoea harbor chromosomal abnormalities, which are significant in gonadal dysgenesis. Conclusion: So genetic counselling, routine chromosomal study, hormonal assessment, and radiological evaluation are important for proper management, also the hormonal replacement for Turner Syndrome patients, and screening for malignancy in patients with sex reversal are important | ||
| Keywords | ||
| : primary amenorrhea; karyotyping; chromosomal abnormalities; congenital anomalies | ||
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