A delayed diagnosis of salt wasting congenital adrenal hyperplasia.

CLINICAL ENDOCRINOLOGY(2016)

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摘要
In patients with salt wasting congenital adrenal hyperplasia (SW-CAH) due to 21-hydroxylase deficiency, synthesis of cortisol and aldosterone is severely impaired. Untreated patients have a high morbidity and mortality due to neonatal salt wasting crises. The lack of cortisol may lead to life-threatening Addisonian crises later in life. We describe a SW-CAH case where the diagnosis and treatment were delayed for several years. This article is protected by copyright. All rights reserved.
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关键词
17-hydroxyprogesterone,21-deoxycortisol,congenital adrenal hyperplasia,pseudohypoaldosteronism
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