impe0096ep5 | Adrenals and HPA Axis | IMPE2023
Noordin Mazidah
, Miyagi Hajime
, Igarashi Mizuho
, Horikawa Reiko
Congenital Lipoid Adrenal Hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia. It is caused by mutation in the steroidogenic acute regulatory protein (StAR) gene, which can be of autosomal recessive inheritance. A 6-year-old girl, with a background of recurrent febrile seizure, presented with history of seizure, preceded by 1-day history of fever. On presentation, she had reduced consciousness, hypoglycemia with refractory hypotensive shock. She was in...