Boddu Sirisha Kusuma, Madhavan Sheeja
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J Pediatr Endocrinol Metab. 2017 Nov 27;30(12):1327-1331. doi: 10.1515/jpem-2017-0166.
Salt wasting syndrome (hyponatremia, hyperkalemia, dehydration, metabolic acidosis) in early infancy could be caused by either mineralocorticoid deficiency as in congenital adrenal hyperplasia (CAH) and adrenal insufficiency or mineralocorticoid resistance as in pseudohypoaldosteronism (PHA). In salt wasting CAH, serum aldosterone and cortisol levels are expected to be low. Cross reactivity between high levels of adrenal steroid precursors and aldosterone has recently been reported resulting in elevated aldosterone levels in CAH, leading to difficulty in differentiating between CAH and PHA.
We report four such cases of salt wasting CAH, where high aldosterone levels and high normal cortisol levels led to initial diagnostic confusion with PHA. Diagnosis of CAH was later established on the basis of significantly elevated adrenocorticotropic hormone (ACTH) stimulated 17-hydroxyprogesterone (17-OHP) values.
By reporting these cases we draw attention to the possibility that high levels of adrenal steroid precursors can cross react with aldosterone and cortisol, and underscore the significance of ACTH stimulated 17-OHP values in differentiating CAH and PHA.
婴儿早期的失盐综合征（低钠血症、高钾血症、脱水、代谢性酸中毒）可能由先天性肾上腺皮质增生症（CAH）和肾上腺功能不全等盐皮质激素缺乏引起，也可能由假性醛固酮增多症（PHA）等盐皮质激素抵抗引起。在失盐型CAH中，血清醛固酮和皮质醇水平预计较低。最近有报道称，高水平的肾上腺类固醇前体与醛固酮之间存在交叉反应，导致CAH患者醛固酮水平升高，从而难以区分CAH和PHA。
我们报告了4例失盐型CAH病例，其中醛固酮水平升高和皮质醇水平正常偏高导致最初与PHA的诊断混淆。CAH的诊断后来基于促肾上腺皮质激素（ACTH）刺激后的17-羟孕酮（17-OHP）值显著升高得以确立。
通过报告这些病例，我们提请注意高水平的肾上腺类固醇前体可能与醛固酮和皮质醇发生交叉反应的可能性，并强调ACTH刺激后的17-OHP值在区分CAH和PHA中的重要性。
