Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report

  • Deepa Khanal Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
  • Deependra Mandal Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
  • Rajan Phuyal Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
  • Uttara Adhikari Department of Pediatrics, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal
Keywords: 21-hydroxylase, congenital adrenal hyperplasia, case report

Abstract

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders due to deficiencies
of enzymes involved in steroidogenesis. The most common form is a 21-hydroxylase deficiency
which can be classical or non-classical. The severe form also called Classical Congenital Adrenal
Hyperplasia is usually detected after birth to infant period. If Congenital Adrenal Hyperplasia is not
diagnosed and treated early, neonates are susceptible to sudden death in the early weeks of life. We
report 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 life
long oral Prednisolone and Fludrocortisone were prescribed.

Published
2020-01-31
How to Cite
Khanal, D., Mandal, D., Phuyal, R., & Adhikari, U. (2020). Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report. Journal of Nepal Medical Association, 58(221). https://doi.org/10.31729/jnma.4811