title: Recent findings on the genetics of disorders of sex development.
abstract: Disorders of sex development (DSD) are a diverse group of conditions affecting gonadal development, sexual differentiation, or chromosomal sex. In this review, we will discuss recent literature on the genetic causes of DSD, with a focus on novel genetic sequencing technologies, new phenotypes associated with known DSD genes, and increasing recognition of the role of genetic regulatory elements in DSD.
  
  
  
  We performed a comprehensive search of PubMed through August 2016 to identify important peer-reviewed publications from 2015 to 2016 on the topic of DSD genetics.
  
  
  
  Whole-exome sequencing was used to successfully identify genetic causes of DSD in 35% of a cohort of 46,XY patients who had not previously received a genetic diagnosis. A novel mutation in NR5A1 has been identified as a cause of 46,XX testicular and ovotesticular DSD, demonstrating a previously unappreciated role of NR5A1 in preventing testicular differentiation in 46,XX individuals. Genetic regulatory elements of SOX9 have been identified as causes of 46,XX and 46,XY DSD.
authors: Division of Endocrinology, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA.
authors: Jessica
authors: J
authors: Kremen
authors: Yee-Ming
authors: YM
authors: Chan
authors: Jonathan M
authors: JM
authors: Swartz
mesh_terms: D012734:Disorders of Sex Development / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D000073336:Whole Genome Sequencing / Q000639:trends*