Biochemical and molecular biological analysis of differentiation deficiets in the testis of patients with gonadal dysgenesis and disorders of sex hormone synthesis

Disorders or Differences of Sex Development (DSD) are a group of congenital conditions affecting the development of chromosomal, gonadal, or anatomical sex. Although approximately 80 genes have been associated with DSD, a molecular diagnosis is only reached in about 50% of cases. This project aims to explore the biochemical and molecular mechanisms underlying testicular differentiation deficits in patients with gonadal dysgenesis and disorders of sex hormone synthesis. Utilizing cutting-edge technologies such as single-cell RNA sequencing and spatial transcriptomics, this study will characterize gene expression patterns and signaling pathways involved in gonadal development. Validation of findings will be conducted through immunohistochemistry and in situ RNA hybridization, comparing DSD patient samples to controls. 

The project aspires to expand our understanding of sex development biology, improve diagnostic tools, and support the development of personalized treatment approaches for individuals with DSD. It will also contribute to ongoing discussions around sex and gender diversity by uncovering the molecular complexity of sexual differentiation.

 

Aims

• Apply single-cell RNA sequencing and spatial transcriptomics to investigate testicular tissue from DSD patients
• Understand how specific gene variants disrupt steroid hormone biosynthesis and action
• Compare gene expression patterns between DSD patients and healthy controls