ESPE Abstracts

Context: Corticotropin-releasing hormone (CRH)-stimulated inferior petrosal sinus sampling (IPSS) has an important role in the differential diagnosis of hypercortisolism of pituitary or ectopic origin as the most accurate procedure in terms of sensitivity and specificity compared with clinical, biochemical and imaging analyses. However, due to the cost and unavailability issues of CRH, desmopressin may be an alternative to CRH during IPSS.<p class="abstext...

Background: Human peroxisomal fatty acyl CoA oxidase 1, encoded by the ACOX1 gene, catalyzes the first and rate limiting step in the beta oxidation of straight chain fatty acids in the peroxisomes. Biallelic mutations in ACOX1 are associated with pseudo-neonatal adrenoleukodystrophy characterized by severe hypotonia, seizures, psychomotor retardation followed by neuroregression, and death in early childhood. To date, primary adrenal insuffici...