Role of Cytogenetics in Gender Confirmation.
J Islamabad Med Dent Coll Jan ;6(3):125-129..
Objective: To determine the Karyotype of referred cases of Gender Ambiguity through Cytogenetic study. Patients and Methods: This cross-sectional study was carried out at Islamabad Diagnostic Centre, Islamabad from April 2010 to June 2017. A total of 72 cases of Gender Ambiguity aged 1day to 35 years were referred to IDC for chromosomal analysis and karyotyping during above mentioned period. Out of these 72 cases, 37 presented with somewhat male-like external genitalia and 35 with more of female-like external genitalia but clear-cut gender differentiation was not possible on external physical examination. Hence Cytogenetics was performed on peripheral blood to confirm their chromosomal makeup. Results: Out of the total 72 cases, 12 cases that were suspected to be female on external physical examination, turned out to have male karyotype (46, XY). Conversely 7 cases that were suspected to be male on external physical examination, turned to have female karyotype (46, XX). Twenty seven cases with male-like clinical gender were confirmed to have male karyotype (46, XY) and 22 cases with female-like clinical gender were confirmed to have female karyotype (46,XX). Conclusion: Cytogenetic study is essential in confirming the chromosomal makeup of individuals born with ambiguous gender. It should be carried out as early as possible in life for appropriate brought up and social adjustment of the affected individual. Keywords
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