Endocrine Abstracts

Recent progress in molecular genetics has successfully identified multiple causative genes for DSD. Such advance is primarily based on the detection of pathologic mutations on coding sequences. However, genetic disorders can be caused by other mechanisms. Here, I will review such mechanisms that have been identified recently.Aromatase excess syndrome (AEXS) as a model for genomic disorder: AEXS is a rare autosomal dominant disorder characterized by gynec...