Drop S L, Frohn-Mulder I M, Visser H K, Sippell W G, Dörr H G, Schöneshöfer M
Acta Endocrinol (Copenh). 1982 Feb;99(2):245-50. doi: 10.1530/acta.0.0990245.
In two children with isolated congenital hyperreninaemic hypoaldosteronism, as well as in their relatives, plasma levels of aldosterone (Aldo), corticosterone (B), deoxycorticosterone (DOC), 18-OH-B and 18-OH-DOC were measured before and after an iv bolus of 0.25 mg Synacthen (Ciba). A corticosterone methyl oxidase deficiency type II was demonstrated in one child. Her normoreninaemic parents (no consanguinity) had plasma values consistent with heterozygosity. The results in the other child and one asymptomatic sib were compatible with a partial corticosterone methyl oxidase deficiency type I. His parents were consanguine but had normal Aldo levels. Overnight dexamethasone administration did not suppress any of the steroids measured except cortisol, suggesting synthesis of these steroids by the zona glomerulosa.
在两名患有孤立性先天性高肾素血症性低醛固酮血症的儿童及其亲属中，在静脉推注0.25 mg辛纳肽（汽巴公司）前后，测量了醛固酮（Aldo）、皮质酮（B）、脱氧皮质酮（DOC）、18-羟皮质酮（18-OH-B）和18-羟脱氧皮质酮（18-OH-DOC）的血浆水平。在一名儿童中证实存在II型皮质酮甲基氧化酶缺乏症。她的肾素水平正常的父母（无血缘关系）的血浆值与杂合子一致。另一名儿童和一名无症状同胞的结果与I型部分皮质酮甲基氧化酶缺乏症相符。他的父母是近亲，但醛固酮水平正常。过夜给予地塞米松除抑制皮质醇外，并未抑制所测的任何一种类固醇，提示这些类固醇由球状带合成。
