Searchable abstracts of presentations at key conferences in endocrinology

ea0099ep729 | Adrenal and Cardiovascular Endocrinology | ECE2024

The cost burden of hospitalisation for adrenal insufficiency patients in the NHS in england

Ruiz Leonardo , Ritz Beate , Murray Robert , Beckett Matthew , Wild Janet

Introduction: Adrenal Insufficiency (AI) is a heterogeneous condition comprising primary, secondary and tertiary disease. Individuals with AI suffer more frequent infections and take longer to recover. Adrenal Crises (ACs), most commonly precipitated by infections, are an acute life-threatening complication with a reported mortality of 6%. ACs are, at least in part, potentially preventable and outcomes are improved by early initiation of high-dose glucocorticoids. Currently, t...

ea0039oc5.1 | Oral Communications 5 | BSPED2015

Mutations in IGSF10 cause self-limited delayed puberty

Howard Sasha , Guasti Leonardo , Ruiz-Babot Gerard , Mancini Alessandra , David Alessia , Storr Helen , Metherell Louise , Cabrera Claudia , Warren Helen , Barnes Michael , Wehkalampi Karoliina , Gothilf Yoav , Andre Valentina , Cariboni Anna , Dunkel Leo

Background: Abnormal pubertal timing affects over 4% of adolescents and is associated with adverse health and psychosocial outcomes. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. However, despite this strong heritability, little is known about the genetic control of human puberty. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but in the majority of patients the neuroendocrine ...