English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

SUMMARY Mutations in the SRY gene prevent differentiation of fetal gonads to testes and cause development of a female phenotype, and lead to sex reversal and pure gonadal dysgenesis (Swyer syndrome, OMIM 480000) develops. Different types of mutations identified in the SRY gene are responsible for 15% of gonadal dysgenesis cases. In this study, we report a new mutation (p.Arg132Pro) in the High Mobility Group (HMG) region of SRY gene detected in a patient with 46,XY karyotype who has primary amenorrhea. This mutation leads to replacement of the polar and basic arginine with a nonpolar hydrophobic proline residue at aminoacid 132 in the nuclear localization signal region of the protein. With this case report we would like to emphasize the genetic approach to the patients with gonadal dysgenesis. If Y chromosome is detected during cytogenetic analysis, revealing the presence of SRY gene and identification of its mutations by sequencing analysis is important.

New Mutation Identified in the SRY Gene High Mobility Group (HMG)