ESPE Abstracts

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

Background: Isolated hypocortisolism due to ACTH deficiency is a rare condition that can be caused by mutations in the gene encoding pro-opiomelanocortin (POMC). POMC is the precursor to bioactive peptides (ACTH, β-endorphin, and α-β-γ-MSH). Mutations that inactive POMC typically result in secondary adrenal insufficiency, severe obesity and red hair; fewer than 50 affected individuals have been reported in the literature.Case presenta...

Background: X-Linked Adrenoleucodystrophy (X-ALD) is a rare neurodegenerative disorder characterised by impaired peroxisomal beta-oxidation of very long chain fatty acids (VLCFA; ≧C22) which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in plasma and tissues, including the white matter of the brain, the spinal cord and adrenal cortex. It is caused by mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein (ALD...