ArticleJNMA; journal of the Nepal Medical Association2024
A Neonate Presenting with Severe Dehydration: A Rare Case of Congenital Adrenal Hyperplasia with Salt Losing Crisis.
Article in JNMA; journal of the Nepal Medical Association, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Rare coexistence of aldosterone resistance and adrenal insufficiency in asymptomatic infant with persistent hyperkalaemia: A case report.World journal of clinical pediatrics · 2026Article
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4 authors.
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Abstract
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in genes involved in cortisol biosynthesis in the adrenal gland. Depending on the enzymatic defect, the symptoms, signs, and laboratory findings differ. The most common form, accounting for more than 95% of cases, is caused by 21-hydroxylase deficiency. Delay in the diagnosis and treatment can lead to life-threatening adrenal crisis with hemodynamic collapse. We report a case of a five-day-old male neonate with congenital adrenal hyperplasia and salt-wasting crisis. The diagnosis was made after comprehensive assessment of clinical features and laboratory investigations. He was treated with hydrocortisone and fludrocortisone and was discharged after one week.
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