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  • Title: Congenital Adrenal Hyperplasia with Salt Wasting Crisis: A Case Report.
    Author: Khanal D, Mandal D, Phuyal R, Adhikari U.
    Journal: JNMA J Nepal Med Assoc; 2020 Jan; 58(221):56-58. PubMed ID: 32335642.
    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. Keywords: 21-hydroxylase, congenital adrenal hyperplasia, case report.
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