hrp0089ha2 | Generating a human gonadal cells model from terminal differentiated fibroblast-derived induced pluripotent stem cells | ESPE2018

Generating a Human Gonadal Cells Model from Terminal Differentiated Fibroblast-Derived Induced Pluripotent Stem Cells

Gutierrez Daniel Rodriguez , Eid Wassim , Biason-Lauber Anna

Background: Differentiation of the gonads in men is closely dependent on Sertoli cells maturation. Differences of sex development (DSD) are caused by variations in this process. The study of the mechanisms underlying these complex conditions is crucial for optimal clinical management and Sertoli cells would be an ideal model for this purpose. However, there are two main obstacles for the study of human Sertoli cells. Firstly, mature human Sertoli cells lose their proliferation...

hrp0084fc6.4 | Gonads & DSD | ESPE2015

Severe 46,XY Disorder of Sex Development due to CBX2 Isoform 2 Mutation is Distinct from CBX2.1 Deficiency and is Likely due to EMX2 Dysregulation in the Human Developing Gonad

Eid Wassim , Costa Elaine , Sproll Patrick , Lauber-Biason Anna

Background: The process of sexual differentiation is central for reproduction of almost all metazoan. Recently, we identified CBX2.1 a chromatin architecture regulator, as an essential transactivator for human male gonadal development. CBX2 has a second isoform CBX2.2. Since nothing is known about the role of CBX2.2 in human sex development, we took advantage of the p.C132R mutation in CBX2.2 in a 46,XY disorder of sex development (DSD) patient with complete female phenotype a...

hrp0084p1-60 | DSD | ESPE2015

Insight into the Human Ovarian Sex Development Networks

Bouazzi Leila , Franco Mariangela , Eid Wassim , Meyer-Boni Monika , Sproll Patrick , Maret Alexander , Lauber-Biason Anna

Background: Ovarian sex differentiation network involves a panoply of interacting factors. Yet, no single sex-determining factor has been identified to be an equivalent of SRY or SOX9 in the testis. Recently, data suggested CBX2 as a pioneer regulator promoting testis development. In addition to its implication in ovary pathway differentiation which remains unclear.Objective and hypotheses: To deepen our understanding of the regulatory network that under...