Cytogenetic analysis and gene mutations investigation in pre-diagnosed patients with gender anomaly

Aim: In our study, it was aimed to determine the karyotypes of patients with a preliminary diagnosis of gender anomaly referred to our laboratory by cytogenetic examination method and to examine possible gene mutations in the light of existing karyotypes. Metarials and Methods: Peripheral blood was taken from 61 patients who came to the Medical Biology-Genetics Laboratories of our University with the preliminary diagnosis of gender anomaly and were detected regardless of age factor, and cytogenetic examination was performed. Gene mutations (SF-1, WT-1, LIM-1) from isolated DNA samples were detected by amplification method with RT-PCR. Result: As a result of the chromosomal analyzes, 43 of 61 patients had 46,XY chromosomes, while 16 patients had 46,XX chromosomes. One of the patients was found to be 45,X (Turner's syndrome), and one patient was found to be mosaic (45,X/47,XXX). As a result of the molecular examination, mutations were detected in 18 patients in the WT1 gene, 8 in the SF1 (NR5A1) gene and 5 in the LIM1 (LHX1) gene. Conclusion: In the light of mutations detected as a result of karyotype and molecular examination, the importance of investigating genetic factors in patients with gender prediagnosis has once again been proven. The role of the investigation of chromosomal anomalies and gene mutations in gender development has been contributed.