ESPE Abstracts

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...

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...

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...