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
Main Subjects
)
