Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

Journal of Nepal Medical Association

article

Deepa Khanal¹  Deependra Mandal¹  Rajan Phuyal¹  Uttara Adhikari¹ 

[1] Department of Pediatrics, Kathmandu Medical College and Teaching Hospital

关键词: 21-hydroxylase;    congenital adrenal hyperplasia;    case report;   

DOI  :  10.31729/jnma.4811

学科分类：社会科学、人文和艺术（综合）

来源: Nepal Medical Association since

【 摘 要 】

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficienciesof enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiencywhich can be classical or non-classical. The severe form also called Classical Congenital AdrenalHyperplasia is usually detected after birth to infant period. If Congenital Adrenal Hyperplasia is notdiagnosed and treated early, neonates are susceptible to sudden death in the early weeks of life. Wereport a case of thirty-five days male with a salt-wasting variant of congenital adrenal hyperplasia.The diagnosis was based on an elevated level of 17-hydroxyprogesterone. He was managed and lifelong oral Prednisolone and Fludrocortisone were prescribed.

【 授权许可】

CC BY