
From left to right are: genital ridge at the time of sex determination; fetal testis and seminiferous cords; fluorescent adult testis; cross-section of adult seminiferous tubule. A team of researchers from the University of Geneva (UNIGE) has been involved in a thorough genetic investigation based on the case of a child suffering from the Nivelon-Nivelon-Mabille Syndrome, a complex condition characterised mainly by a sexual development disorder. Following a genome analysis of the patient and parents, the scientists, led by Serge Nef, Professor of the Department of Genetic Medicine and Development in the Faculty of Medicine, have identified not only the gene, but also the protein-producing mechanism, whose malfunctioning causes the syndrome in question. Published in PLOS Genetics, these results make way for genetic tests, thus improving treatment for patients and their families.