Previous issue | Volume 84 | ESPE2015 | Next issue

54th Annual ESPE

Barcelona, Spain
01 Oct 2015 - 03 Oct 2015

Card image cap
Barcelona, Spain; 1-3 October 2015 Further information


Disorders of sex development: An update

hrp0084s3.1 | Disorders of sex development: An update | ESPE2015

Novel Genes Identified in Male and Female Sex Development

McElreavey Kenneth

Next generation sequencing technologies are dramatically changing biomedical research and patient diagnosis. The reducing costs of sequencing as well as robust experimental and computational protocols mean that the technology is readily available to most research and diagnostic laboratories. However, the identification of disease-causing mutations in individuals with disorders of sex development (DSD) is challenging for several reasons. These conditions are very difficult to s...

hrp0084s3.2 | Disorders of sex development: An update | ESPE2015

Decision Making in DSD: Development of a Decision Support Tool

Sandberg David , Callens Nina , Siminoff Laura

Background: Disorders/differences of sex development (DSD) differ from other rare conditions which are often accompanied by significant morbidity and mortality. With limited exceptions, DSD are not life-threatening and do not predict a given level of physical health or health-related quality of life across the lifespan. The birth of a child with DSD is anxiety-provoking. Stressors include weathering drawn-out diagnostic testing, difficulty absorbing complex medical information...

hrp0084s3.3 | Disorders of sex development: An update | ESPE2015

Genetic and Environmental Disruption of Testicular Function

Soder Olle

Approximately 25 of 100 000 children are born with an atypical appearance of their genitalia as part of a more or less defined disorder of sex development (DSD). Due to improved medical knowledge and better classification, the aetiology and pathophysiology behind a growing number of these cases have been clarified, although a large number still remains obscure with respect to the underlying biology. In line with this, there are growing insights into the functional consequences...