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ea0099ep736 | Adrenal and Cardiovascular Endocrinology | ECE2024

Polygenic risk score for autoimmune Addison’s disease combined with whole-genome sequencing identifies patients with undiagnosed monogenic primary adrenal insufficiency

Aranda-Guillen Maribel , Botusan Ileana R. , Fernando Venuja , Royrvik Ellen , Susanne Boe Wolff Anette , Johansson Stefan , Sverre Husebye Eystein , Bensing Sophie , Kampe Olle , Eriksson Daniel

Background: Primary adrenal insufficiency (PAI) is sometimes misdiagnosed as autoimmune Addisons disease (AAD), affecting clinical management and genetic counselling. We tested a polygenic risk score (PRS) for AAD (PRS14AAD) as a tool to reevaluate disease etiology and identify patients misdiagnosed with AAD.Methods: We calculated the PRS14AAD in a cohort of patients diagnosed with AAD but lacking 21-hydroxylase autoantibodies...

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ea0099rc3.3 | Rapid Communications 3: Adrenal and Cardiovascular Endocrinology | Part I | ECE2024

Quantifying variability in ambulatory 24-hour tissue hormones for personalised management of hormonal replacement in patients with adrenal insufficiency

Botusan Ileana R. , Berinder Katarina , Methlie Paal , Upton Thomas , Zavala Eder , Russell Georgina , Simunkova Katerina , Vassiliadi Dimitra , Marinelli Isabella , Grytaas Marianne Aardal , Tsagarakis Stylianos , Lightman Stafford , Husebye Eystein Sverre , Kampe Olle , Oksnes Marianne , Bensing Sophie

Background: Recently, we have shown that ambulatory 24-hour dynamic steroid profiling using the newly developed U-RHYTHM system is possible and presented the circadian and ultradian rhythmicity of adrenal hormones in a healthy cohort. With U-RHYTHM, multiple hormones can be sampled simultaneously, and the free active hormones can be measured in local tissue where the effect is exerted. Thus the hormone fingerprint resulting from replacement therapy in individual patients can b...

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Endocrine Abstracts

Polygenic risk score for autoimmune Addison’s disease combined with whole-genome sequencing identifies patients with undiagnosed monogenic primary adrenal insufficiency

Quantifying variability in ambulatory 24-hour tissue hormones for personalised management of hormonal replacement in patients with adrenal insufficiency

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