Endocrine Abstracts

Effective research into understanding the aetiology of disorders of sex development (DSDs), as well as long-term outcome of these rare conditions, requires multicentre collaboration often across national boundaries. The EU-funded EuroDSD programme (www.eurodsd.eu) is one such collaboration involving clinical centres and clinical and genetic experts. At the heart of the EuroDSD collaboration is a DSD register that supports the sharing of DSD ...

Background: Congenital adrenal hyperplasia (CAH) is a rare condition that is associated with life long risk of adrenal crisis. Management of CAH demands a fine balance between excess glucocorticoid leading to adverse effects and too little glucocorticoid risking adrenal crises. Frequent occurrence of sick day episodes warrants dose adjustment and education regarding adrenal crisis. In a condition such as CAH it is difficult to collect sufficient data from small cohorts at a si...

Background: Improved knowledge of the range of anomalies encountered in DSD may improve our understanding of the underlying aetiology. However, given the rarity of these conditions, thorough analysis of congenital anomalies in DSD has not previously been possible.Aims: To discover the frequency of congenital anomalies in DSD, and to identify patterns of anomalies within specific conditions.Methods: 1050 registered cases on The I-DS...