Endocrine Abstracts

A 36 year-old female presented with increasing headaches over the previous 8 months. She had seen in the neurology clinic recently and treated for migraines and cluster headache. She also had a history of depression. She had prodromal aura of visual disturbance including blurred vision and photophobia.She was admitted following sudden onset of stabbing pain over the left eye along with nausea. All these symptoms were classic of her usual migraines. On ad...

The glucocorticoid hormone, cortisol, regulates fuel metabolism, inflammation and stress–responses. Its circulating concentrations are tightly controlled by the hypothalamic–pituitary–adrenal axis. However, 11β-hydroxysteroid dehydrogenase 1 (11βHSD1) generates additional cortisol in tissues, by reduction of inert cortisone. Using a tracer (9,11,12,12[2H]4-cortisol; d4-cortisol), the velocity of 11βHSD1 can be determined as t...

Triple A syndrome (AAAS) is a rare, incurable, homozygous disorder, characterised by tissue-specific degeneration resulting in adrenal failure and neurodisability. The AAAS gene encodes ALADIN, a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. The inte...