Hughes I A, Arisaka O, Perry L A, Honour J W
Acta Endocrinol (Copenh). 1986 Mar;111(3):349-54. doi: 10.1530/acta.0.1110349.
Plasma and urinary steroid measurements are reported in 2 normotensive newborn female siblings with virilized external genitalia due to 11 beta-hydroxylase deficiency. Plasma 11-deoxycortisol concentrations were markedly elevated whereas 17OH-progesterone concentrations were not raised. Plasma renin activity was suppressed, but increased to levels characteristic of infancy within 4 weeks of treatment. The enzyme defect was confirmed by measurement of increased urinary excretion of tetrahydro-11-deoxycortisol. A more polar steroid metabolite, 6 alpha-hydroxytetrahydro-11-deoxycortisol was also determined by gas chromatographic and mass spectrometric analysis. Analysis of metabolites in urine is an additional specific marker to plasma 11-deoxycortisol measurement for the diagnosis of 11 beta-hydroxylase deficiency in early infancy.
报告了2名患有男性化外生殖器的血压正常的新生儿女性同胞因11β-羟化酶缺乏症的血浆和尿液类固醇测量结果。血浆11-脱氧皮质醇浓度显著升高，而17-羟孕酮浓度未升高。血浆肾素活性受到抑制，但在治疗4周内升至婴儿期特征水平。通过测量四氢-11-脱氧皮质醇尿排泄增加证实了酶缺陷。还通过气相色谱和质谱分析测定了一种极性更强的类固醇代谢物6α-羟基四氢-11-脱氧皮质醇。尿液中代谢物分析是诊断婴儿早期11β-羟化酶缺乏症时血浆11-脱氧皮质醇测量之外的另一种特异性标志物。
