Published Online: Aug 06, 2018
Page range: 35 - 41
Received: May 22, 2018
Accepted: Jun 30, 2018
DOI: https://doi.org/10.2478/acm-2018-0005
Keywords
© 2018 J Gecz et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic testing which has surely taken its place in diagnostics of DSD in the past couple of years. We emphasize the need of molecular genetic testing in individuals with non-syndromic 46,XY DSD in Slovak Republic.