hrp0092p1-302 | Adrenals and HPA Axis (2) | ESPE2019

MIRAGE Syndrome, a Novel Syndromic form of Primary Adrenal Insufficiency

Chin Xinyi , Sreedharan Aravind Venkatesh , Ting Teck Wah , Vasanwala Rashida Farhad

Primary adrenal insufficiency (PAI) is a rare but potentially life-threatening disease. When this happens very early in life, genetic causes should be considered. Here, we report a newborn who presented with hyperkalemia, hyponatriemia, hypoglycaemia and generalised hyperpigmentation, and was found to have primary adrenal insufficiency. This child also had concurrent issues of poor growth, sepsis and persistent pancytopenia. She was eventually diagnosed with MIRAGE syndrome (M...