Endocrine Abstracts

Introduction: Cushing’s disease (CD) is a rare but devastating condition, caused by hypersecretion of adrenocorticotropic hormone (ACTH) from a corticotroph adenoma in the anterior pituitary. CD is associated with a five-fold excess mortality and clinical features including hypertension, diabetes mellitus, osteoporosis, and depression. First-line treatment is transsphenoidal surgery, but this is effective in only 65% of cases and the relapse rate is high. Other treatment ...

Context: Autoimmune polyendocrine syndrome type 1 (APS1) is characterised by multiple autoimmune endocrinopathies and results from mutations in the autoimmune regulator (AIRE) gene. Approximately 80% of patients present with hypoparathyroidism which is suggested to result from autoimmune responses against the parathyroid glands. The calcium-sensing receptor (CaSR), which plays a pivotal role in maintaining calcium homeostasis by sensing blood calcium levels and regula...

Rationale and hypothesis: Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disease which is characterised by chronic mucocutaneous candidiasis and multiple autoimmune endocrinopathies and results from mutations in the autoimmune regulator (AIRE) gene. Approximately 80% of APS1 patients present with hypoparathyroidism which is suggested to result from aberrant immune responses against the parathyroid gland. As patients typically display org...

Introduction: Worldwide the Short Synacthen Test (SST) is the most popular investigation for adrenal insufficiency (AI). Its invasivity make it resource-intensive. Salivary cortisol is a well-established alternative to serum. We have developed a non-invasive alternative to the SST, using a novel formulation of Synacthen (containing a drug enhancer, chitosan) administered nasally and utilising saliva to measure glucocorticoid response.Methods: Four open-l...

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...