ESPE Abstracts

Background: An ENDO-ERN initiative was launched which was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis and management of prima...

The aim of the lecture is to show the expectations and unmet needs of people affected by X-linked hypophosphatemia. As XLH is a rare disease, these patients face the same problems as most of other rare disease causes, but there are additional burdens in XLH, related to the specifics of the disorder. X-linked hypophosphatemia is a rare inherited metabolic bone disease, which can also be caused by a spontaneous mutation. There is an alteration in the Phex gene what leads to rena...

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