Cytogenetics study in cases of gender crisis

Abstract

Disorder of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex, DSD is a rare disease that may affect both male and female with a frequency of 1 in 20,000-25,000 in males, while the female prevalence is 1 in 16,000, as female with disorder in sex development may have uterus but with secondary sexual characters resemble those of males and this is due to the increase levels of the androgen hormone during pregnancy and the karyotyping will be 46 chromosomes that includes 44 autosomal chromosome and XY sex chromosomes instead of XX sex chromosomes of a normal female, while male with disorder of sex development may have testes but with an external secondary sexual characters resemble those of females, and this is due to the decrease levels in the androgen hormone and sex-determining region of the Y chromosome (SRY) and during pregnancy and the karyotyping will be 46 chromosomes that includes 44 autosomal chromosome and XX sex chromosomes instead of XY sex chromosomes of the normal male. This project aims to karyotype three patients one male and two females that was expected to have disorder of sex development, through six steps which starts by set up Harvest that starts by set up step to enable cell growth for 72 hrs. Then followed by harvest of the white blood cells, then Spreading, after that Banding step, Photo, and Karyotyping to detect if there is any gender crisis within this sample or not, for example if there is a female with (XY) instead of (XX) and male with (XX) instead of (XY) in their sex chromosomes. While the results was positive for the three patients as the two females karyotype was 46, XY and the male karyotype was 46, XX.