Searchable abstracts of presentations at key conferences in endocrinology

ea0077p144 | Adrenal and Cardiovascular | SFEBES2021

An analysis of full blood count parameters in a cohort of patients with classical congenital adrenal hyperplasia

Howarth Sophie , Devine Kerri , Mitchell Anna L

Background: Hyperandrogenism in congenital adrenal hyperplasia (CAH) is associated with virilisation in female patients and subfertility in both male and female patients. However, little is known regarding the association of hyperandrogenaemia with polycythaemia. We evaluate the association between the adrenal hormone profile and haematocrit (HCT)/haemoglobin (Hb) in a cohort of patients with classical CAH.Methods: Single centre retrospective analysis of...

ea0086p1 | Adrenal and Cardiovascular | SFEBES2022

Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison’s disease cohort

Howarth Sophie , Sneddon Georgina , Allinson Kathleen , Razvi Salman , Mitchell Anna , Pearce Simon

Background: Autoimmune Addison’s disease (AAD) is a rare endocrinopathy arising from a complex interplay between multiple genetic susceptibility polymorphisms and environmental factors. Several variants in immune pathways have been identified through hypothesis-driven candidate gene analysis, though these associations can prove difficult to replicate. The first genome wide association study (GWAS) with patients from Scandinavian Addison’s registries identified associ...