<abstract xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></abstract>

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.

Non-Syndromic 46,XY Disorders of Sex Development

Clinic of Children and Adolescents, Jessenius Faculty of Medicine

Comenius University and University Hospital

Department of Paediatric Emergency, National Institute of Children’s Diseases

Clinic of Paediatric Urology, National Institute of Children’s Diseases

Acta Medica Martiniana

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"Non-Syndromic 46,XY Disorders of Sex Development"}

Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene...

Non-Syndromic 46,XY Disorders of Sex Development

Pubblicato online: 06 ago 2018

Pagine: 35 - 41

Ricevuto: 22 mag 2018

Accettato: 30 giu 2018

DOI: https://doi.org/10.2478/acm-2018-0005

Parole chiave
46, XY DSD, non-syndromic, gene

© 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 Disorders of Sex Development

Pubblicato online: 06 ago 2018

Pagine: 35 - 41

Ricevuto: 22 mag 2018

Accettato: 30 giu 2018

DOI: https://doi.org/10.2478/acm-2018-0005

Parole chiave46, XY DSD, non-syndromic, gene

© 2018 J Gecz et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Parole chiave
46, XY DSD, non-syndromic, gene