hrp0092fc10.5 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Transcriptome Analysis of Novel Sertoli Cell Models to Highlight Potential Genes Involved in DSD Mechanism of Disease

Gutiérrez Daniel Rodríguez , Sproll Patrick , Biason-Lauber Anna

Background: Determination of the gonads in men is closely dependent on Sertoli cells differentiation and maturation. Many cases of differences of sex development (DSD) are caused by variations in these processes. 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. Our human Sertoli-like cell model (SLCs) may shed some light on the identification o...

hrp0092fc10.2 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Fruit Fly, Drosophila Melanogaster, as a Model to Elucidate Human Differences of Sex Development (DSD)

Mercadé Ivan Domènech , Sotillos Sol , Gutiérrez Daniel Rodríguez , Nef Serge , Hombría James C-G , Biason-Lauber Anna

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing were shown to carry a mutation in the X-linked StAR-related lipid transfer...

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</...

hrp0092p1-410 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (2) | ESPE2019

Sertoli Cell Function after Chemotherapy in Boys with Hematologic Malignancies

Grinspon Romina P. , Arozarena Maria , Prada Silvina , Bargman Graciela , Sanzone María , Morales Bazurto Marjorie , Kanneman Ana , Bedecarrás Patricia , Gutiérrez Marcela , Gottlieb Silvia , Berenstein Ariel J. , Gabriela Ropelato María , Bergadá Ignacio , Aversa Luis , Rey Rodolfo A.

Introduction: Gonadotoxicity associated with chemotherapy of hematologic malignancies has been described mainly in adults, focused on the sensitivity of germ cells. Little attention has been placed on Sertoli cells during childhood and puberty, even though Sertoli cell development is essential for adult spermatogenesis.Objective: To assess function of the pituitary-testicular axis, with emphasis on Sertoli cell function,...