Table of Contents

HK J Paediatr (New Series)
Vol 10. No. 2, 2005

HK J Paediatr (New Series) 2005;10:119-122

Case Report

A Case of Congenital Adrenal Hypoplasia Caused By the Deletion of DAX-1 Gene on X Chromosome

DCW Chan, KL Ng, PLS Ip


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.

Keyword : Congenital adrenal hypoplasia; DAX-1 gene

Abstract in Chinese


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