Searchable abstracts of presentations at key conferences in endocrinology

ea0094op5.3 | Adrenal and Cardiovascular | SFEBES2023

Adrenal insufficiency can be associated with biallelic mutations in porphyria genes

Smith Chris , Al-Salihi Ahmed , Janecke Andreas , Steichen Elisabeth , Banka Siddharth , Jackson Adam , Darby Denise , Griffin Liezel , Stewart Sarah , Elsayed Solaf , Talbi Neila , Gouya Laurent , Chan Li , Metherell Louise

Adrenal insufficiency (AI) is life-threatening and can present alone or in combination with other co-morbidities. Acute porphyria attacks can also be serious, resulting in permanent disability or death and symptoms can be similar to AI. Previous literature describing hormonal perturbations in porphyria suggest an association between the two conditions. We were referred a family with 4 individuals with porphyria and AI, the clinical picture included global developmental delay, ...