hrp0082lbp-d3-1002 | (1) | ESPE2014
Chan Li
, Novoselova Tatiana
, Rath Shoshana
, Carpenter Karen
, Atkinson H
, Dickinson Jan
, Pachter Nick
, Price G
, Choong Cathy
, Metherell Lou
Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...