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Sex reversal in cytogenomic world
Khomyn, Diana ; Drábová, Jana (advisor) ; Šolc, Roman (referee)
Sex development is a sophisticated regulatory system that is controlled by the activation and inhibition of specific genes. Gonadal differentiation is governed by the presence of the SRY gene on the Y chromosome. Expression of this gene triggers a cascade of events leading to the formation of testicular tissue; otherwise, in the absence of the Y chromosome and the SRY gene, the reproductive system develops towards the ovaries. As technologies in cytogenetics and molecular biology have advanced, diagnostic methods have improved and the molecular causes of DSD, which are both clinically and causally diverse, are being increasingly elucidated. There are several classification systems for DSD, and this thesis is based on the classification with three main diagnostic categories: 46,XX DSD; 46,XY DSD and sex chromosome anomalies. This system uses the patients' karyotype and histological characteristics of the gonads to identify and descriptively classify DSDs. This thesis briefly describes the categories of DSD, their characteristic features, and how they differ from each other. The main focus is on the categories 46,XX DSD and 46,XY DSD, previously referred to as sex reversals, which involves the development of phenotypic features that are contrary to the genotype of the individual. The 46,XX DSD...
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