Department of Paediatrics & Adolescent Medicine, United Christian Hospital, 130 Hip Wo Street, Kwun Tong, Kowloon, Hong Kong, China
DCW Chan ( 陳振榮 ) MBBS, MRCP(UK), MRCPCH
KL Ng ( 吳國樑 ) MBBS, FHKCPaed, FHKAM
PLS Ip ( 葉麗嫦 ) MBBS, FHKCPaed, FHKAM
Correspondence to: Dr DCW Chan
Received June 7, 2004
We report a case of congenital adrenal hypoplasia who presented with primary adrenal insufficiency in infancy. Fluorescent in situ hybridization identified a deletion of DAX-1 gene on his X chromosome. He improved dramatically after the hydrocortisone, fludrocortisone and sodium chloride treatment.
