Article
Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development.
Biology of sex differences - 8 Oct 2024
Berglund Agnethe, Johannsen Emma B, Skakkebæk Anne, Chang Simon, Rohayem Julia, Laurentino Sandra, Hørlyck Arne, Drue Simon O, Bak Ebbe Norskov, Fedder Jens, Tüttelmann Frank, Gromoll Jörg, Just Jesper, Gravholt Claus H
Abstract excerpt
BACKGROUND: 46,XX testicular disorder/difference of sex development (46,XX DSD) is a rare congenital condition, characterized by a combination of the typical female sex chromosome constitution, 46,XX, and a variable male phenotype. In the majority of individuals with 46,XX DSD, a Y chromosome segment containing the sex-determining region gene (SRY) has been translocated to the paternal X chromosome. However, the...
Topics
Join the communities discussing this publication.