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Review
. 2013:14:371-92.
doi: 10.1146/annurev-genom-091212-153417. Epub 2013 Jul 15.

Translational genetics for diagnosis of human disorders of sex development

Ruth M Baxter  1 , Eric Vilain
Affiliations
Review

Translational genetics for diagnosis of human disorders of sex development

Ruth M Baxter et al. Annu Rev Genomics Hum Genet. 2013.

Abstract

Disorders of sex development (DSDs) are congenital conditions with discrepancies between the chromosomal, gonadal, and phenotypic sex of the individual. Such disorders have historically been difficult to diagnose and cause great stress to patients and their families. Genetic analysis of human samples has been instrumental in elucidating the molecules and pathways involved in the development of the bipotential gonad into a functioning testis or ovary. However, many DSD patients still do not receive a genetic diagnosis. New genetic and genomic technologies are expanding our knowledge of the underlying mechanism of DSDs and opening new avenues for clinical diagnosis. We review the genetic technologies that have elucidated the genes that are well established in sex determination in humans, discuss findings from more recent genomic technologies, and propose a new paradigm for clinical diagnosis of DSDs.

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Figures

Figure 1
Figure 1
Suggested clinical testing for genetic diagnosis of disorders of sex development (DSDs).
See this image and copyright information in PMC

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