Haschke F, Hohenauer L, Parth K, Zimprich H
Padiatr Padol Suppl. 1977(5):37-42.
We observed a 2-week old boy who developed a typical salt-losing syndrome. Urinary 17-ketosteroid excretion of 2.4 mg per day lead us to the diagnosis of congenital adrenal hyperplasia and the usual treatment with hydrocortisone, DOCA and NcCl orally was started. The 6-months old child will tolerate a reduction and subsequent withdrawal of hydrocortisone. Mineralcorticoid and NaCl treatment, however, is to be continued. Further studies clearly showed that in the 8 and 9-month-old child cortisol production could very well be stimulated by synthetic ACTH, but the base line plasma aldosterone was exceedingly low and stimulation by ACTH and salt depletion was impossible. Instant cortisol as well as aldosterone stimulation occurs not until the child is 14 months old. There is valid evidence for a defect in aldosterone biosynthesis, which may be caused by 18-hydroxylation or 18-dehydrogenation deficiency.
我们观察了一名2周大的男婴，他出现了典型的失盐综合征。每日尿17 - 酮类固醇排泄量为2.4毫克，这使我们诊断为先天性肾上腺增生，并开始了口服氢化可的松、去氧皮质酮和氯化钠的常规治疗。6个月大的患儿将耐受氢化可的松的减量及随后的停药。然而，盐皮质激素和氯化钠治疗仍需继续。进一步研究清楚地表明，在8个月和9个月大的患儿中，合成促肾上腺皮质激素（ACTH）能够很好地刺激皮质醇的产生，但基础血浆醛固酮水平极低，ACTH和缺盐刺激均无效。直到患儿14个月大时才会出现即时的皮质醇和醛固酮刺激。有确凿证据表明存在醛固酮生物合成缺陷，这可能是由18 - 羟化或18 - 脱氢缺乏引起的。
