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...

The 2006 DSD consensus statement states that all newborns should receive a gender assignment. Gender assignment decisions are typically guided by a combination of diagnosis and long-term, adult follow-up studies that focus on gender identity stability and other psychosexual outcomes. One relevant question in gender assignment is whether, in newborns, gender identity can be predicted, and if so, whether adult gender identity is related to prenatal brain exposure to testosterone...

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