A new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism in two Japanese sisters.
A new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism in two Japanese sisters.
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两名日本姐妹的 17 α-羟化酶缺乏症新变体伴有醛固酮增多症。
DOI：
10.1507/endocrj1954.36.315
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
N. Takasu
中科院分区：
文献类型：
--
作者：
S. Monno;N. Takasu
我们报告一对姐妹，她们患有17α-羟基酶缺乏症和醛固酮增多症。他们患有高血压和高促性腺激素减退症。类固醇图谱显示他们有17α-羟基酶缺乏症。与17α-羟基酶缺乏症的经典生化结果不同，这两名患者都患有醛固酮增多症。因此，这份报告描述了一种新的17α-羟基酶缺乏症伴醛固酮增多症。地塞米松可抑制包括醛固酮在内的糖皮质激素过量，改善高血压。在未经治疗的状态下，ACTH而不是肾素-血管紧张素系统调节血浆醛固酮水平，但在地塞米松治疗期间，肾素-血管紧张素系统调节这些水平。
We present a report on two sisters who have 17 alpha-hydroxylase deficiency with hyperaldosteronism. They have hypertension and hypergonadotropic hypogonadism. The steroid profiles suggest that they have 17 alpha-hydroxylase deficiency. In contrast to the classical biochemical findings in 17 alpha-hydroxylase deficiency, both of these patients have hyperaldosteronism. Thus this report describes a new variant of 17 alpha-hydroxylase deficiency with hyperaldosteronism. Dexamethasone suppressed the mineralocorticoid excess, including aldosterone, and improved their hypertension. In the untreated state, ACTH, instead of the renin-angiotensin system, regulated plasma aldosterone levels, but during dexamethasone treatment the renin-angiotensin system regulated these levels.