September 13, 2019
Bulletin interne de l'Institut Pasteur
Discovery of a new ribosomopathy in humans that results in a lack of testis-determination or testicular regression
Sex determination is the process whereby an organism becomes male or female. A multinational consortium, led by Institut Pasteur scientists, has made a breakthrough in understanding the genetics of sex determination in humans. They have discovered that DHX37, a gene highly conserved during evolution and until now only known for its role in ribosome biogenesis, is involved in both determining and maintaining the identity of testicular tissue. It is the first genetic cause to be identified for testicular regression. These findings open up new avenues for understanding the genetic origin of disorders of sex development (DSD). It will be published in the journal Genetics in Medicine and is available online.