Genetic Disorders of Sex Differentiation

  • Ken McElreaveyEmail author
  • Anu Bashamboo
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)


Disorders of sex development (DSD) constitute a large array of disorders that affect the genito-urinary tract and often include the endocrine system [25]. 46,XY DSD includes 46,XY complete or partial gonadal dysgenesis and undervirilization or undermasculinization of an XY male due to defects in androgen synthesis or action. 46,XX DSD includes gonadal dysgenesis or more commonly overvirilization or masculinization of an XX female due to androgen excess. Ovotesticular DSD refers to an individual with both ovarian and testicular material present in the same or different gonads and 46,XX testicular DSD refers to an XX male with testes. Other forms of DSD include cloacal extrophy, severe hypospadias, vaginal atresia, and as part of other conditions such as Mayer–Rokitansky–Kuster–Hauser syndrome, Smith–Lemli–Opitz syndrome, or genito-palato-cardiac syndrome [47, 58]. DSD-related phenotypes include cryptorchidism and hypospadias. Some of these disorders are relatively rare such as 46,XY complete and partial gonadal dysgenesis which affects approximately 1:50,000 individuals, while other DSD-related phenotypes are more common such as hypospadias and/or cryptorchidism, which can affect around 1:50 newborn males. In recent years there has been a considerable effort to identify the underlying genetic anomaly in these cases. However, only 50% of 46,XY children with DSD will receive a definitive diagnosis [25].


SOX9 Expression Gonadal Dysgenesis Primary Ovarian Insufficiency Frasier Syndrome Campomelic Dysplasia 
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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Human Developmental Genetics, Institut PasteurParisFrance

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