Endocrine Abstracts

Aggressive adreno-cortical carcinoma (ACC) is a rare, aggressive malignancy, with poorly understood molecular pathogenesis. As a result, therapeutic options are currently limited, surgery being currently the lone curative modality. Most cases of ACC are sporadic, although some familial cancer syndromes (Li–Fraumeni, Beckwith–Wiedemann, MEN1, Carney complex, congenital adrenal hyperplasia, etc.) are associated with an increased incidence of ACC. The genes involved in ...

Background: APECED syndrome is a rare monogenic disease caused by homozygous mutation of AIRE gene. It classically presents with chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP), and adrenal insufficiency (AI) with an early onset in childhood. Non-endocrine manifestations as ectodermic dystrophy, asplenism and pneumonitis are also observed but their incidence remains unknown and their mechanisms not well understood. APECED has been poorly reported in France alt...