Chromosome Analysis and Rt-Pcr Results of Sox9 and Sry Genes in Patients With Gender Development Disorder

Year 2025, Volume: 17 Issue: 2, 11 - 17

Esra İldeniz Özalp , Diclehan Oral , Selahattin Tekeş , Mahmut Balkan

Abstract

Introduction
Gender Developmental Disorder (GDD) is a condition caused by abnormal development of chromosomal, gonadal or anatomical sex. This condition can present with a wide clinical spectrum. Sex determining region Y protein or testis determining factor is a DNA-binding protein encoded by the SRY gene, which is responsible for the initiation of male sex determination in therian mammals. Transcription factor SOX-9 is a protein encoded by the SOX9 gene in humans. In this study, we planned to investigate the effect of SRY and SOX9 genes on the changes that occur after bipotential gonad development in patients with disorders of sex development in our region and to investigate whether there is a relationship between mutations in these genes and testicular and ovarian development.
Materials and Methods:
The study was carried out using DNA samples isolated from the blood of 60 patients aged 0-45 years who were admitted to the laboratories of the Department of Medical Biology-Genetics with suspicion of gender development disorder. As a result of cytogenetic studies, karyotype evaluation was performed and SRY and SOX9 gene analysis was performed to evaluate these patients in terms of molecular studies. SRY and SOX9 gene analyses of the patients were amplified by RT-PCR and the data obtained were evaluated by biostatistical method.
Results:
Karyotype analysis and molecular studies were performed on samples obtained from 60 patients with a preliminary diagnosis of Gender Development Disorder. As a result of the molecular studies, it was determined that SRY gene was absent in 4 of 44 individuals with 46,XY karyotype, SRY gene was present in 3 of 16 individuals with 46 XX karyotype and SOX9 gene was present in all patients.
Conclusions:
SOX9 gene is located on the autosomal chromosome and shows activity depending on the SRY gene. As a result, SOX9 gene is present in all individuals and is effective in sexual organ development depending on SRY gene. As a result of this study, a more detailed study is needed for the relationship between SRY and SOX9 gene regions and sex.

Keywords

SOX9 gene, SRY gene, disorder of sex development

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