hrp0095p2-261 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

VSD genetic diagnosis exploiting single-cell expression data and deep learning

von der Decken Isabel , Azimi Hamid , Lauber-Biason Anna

The majority of patients with Variations of Sex Development (VSD) lack a genetic diagnosis. Patients that are born with atypical chromosomal, gonadal, or phenotypical sex, present a wide spectrum of phenotypes that are often associated with ambiguous genitalia, infertility as well as increased susceptibility to testicular or ovarian cancer. Many different genetic causes of VSD have been reported [2], but for more than 50% [3] of all VSD patients, the molecular cause of their c...

hrp0094p2-396 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Combining big data science with clinics: Novel approach for understanding human sex development and its variants.

Rodriguez Gutierrez Daniel , Sproll Patrick , Von der Decken Isabel , Stevenson Brian , Lang-Muritano Mariarosaria , Konrad Daniel , L’Allemand Dagmar , Nef Serge , Biason-Lauber Anna ,

Background/Introduction: Whole exome sequencing (WES) revolutionized clinical genetics in patients with differences of sex development (DSD). However, our ability to interpret WES data is limited by our incomplete understanding of the mechanisms involved in DSD. Thus, we created a methodology that scores potential candidates based on single cells transcriptomics of human male gonadal cells and applied it to WES data from a cohort of genetically male (46,XY) DS...

hrp0094p2-427 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

High throughput screening of DSD candidate genes with the help of the powerful model Drosophila melanogaster

von der Decken Isabel , Gutiérrez Daniel Rodríguez , Sotillos Sol , Castelli-Gair Hombria James , Sprecher Simon , Lauber Anna

Drosophila melanogaster as a study model has already significantly contributed to the understanding of the mechanisms of many human diseases. So far D. melanogaster has rarely been exploited as a model for human sex development. Nanda already demonstrated in 2009 that the Drosophila orthologue of SOX9, Sox100B is essential for testis development in Drosophila. Similarly, we could demonstrate that the fly homolog of STARD8, cv-c</...