ArticleCureus2026
A Delayed Presentation of Salt-Wasting Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Deficiency in an Infant: A Case Report.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Congenital adrenal hyperplasia (CAH) is a group of inherited disorders affecting adrenal steroid synthesis and can lead to adrenal insufficiency, salt-wasting crises, and disorders of sex development. Most cases are identified in the neonatal period; however, rarer enzymatic defects may present later, making diagnosis more challenging. We report a case of classical salt-wasting CAH most consistent with 3β-hydroxysteroid dehydrogenase type 2 (3β-HSD2) deficiency in a two-month-old infant who presented with sudden cardiac arrest due to adrenal crisis. The infant had been clinically well since birth, with no early features suggestive of adrenal insufficiency. Prompt recognition and initiation of glucocorticoid and mineralocorticoid therapy led to rapid clinical stabilization. This case highlights the marked variability in the clinical presentation of classical 3β-HSD2 deficiency and emphasizes that severe, life-threatening adrenal crises may occur beyond the neonatal period, even in the absence of early warning signs.
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