Searchable abstracts of presentations at key conferences in endocrinology

ea0095oc4.1 | Oral Communications 4 | BSPED2023

Cortisone reductase deficiency: a rare cause of hyperandrogenaemia and premature adrenarche

Gregoriou Kyriacos , Purushothaman Preetha , Hughes Claire

Introduction: 11-beta-dehydroxysteroid dehydrogenase-1 (11BHSD1) is a bidirectional enzyme which converts inactive cortisone and 11-dehydrocorticosterone to active cortisol and corticosterone and vice-versa. The direction is dependent on NADPH availability and the action of the cofactor enzyme hexose-6-phosphate dehydrogenase (H6PDH). Cortisone reductase deficiency is a rare disorder caused by defects in 11BHSD1 or H6PDH, leading to inability to regenerate act...