Abstract
Background Disorders of sex development (DSDs) refer to congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present neonatally with ambiguous genitalia preventing immediate gender assignment or during adolescence where atypical sexual development becomes apparent. Genetic testing is key in establishing a diagnosis, allowing for personalised patient management and may significantly reduce the period of uncertainty for families regarding the sex of rearing of their child. Cytogenetics may provide guidance on possible causes and where further investigation is indicated, however a definitive molecular diagnosis is only made in around 20% of cases. Current DSD molecular testing strategies are not ideal, as tests for only a few of the many associated genes are currently available and require sequential testing. The development of next generation sequencing (NGS) strategies allows for multiple genes to be investigated simultaneously at a reduced cost compared to the Sanger sequencing strategies. Such tests also reduce long waiting times caused by sequential gene testing.
Published Version
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