Plasma and Urinary Steroids in an Eight-Year-Old Boy with 3β-Hydroxysteroid Dehydrogenase Deficiency
Plasma and Urinary Steroids in an Eight-Year-Old Boy with 3β-Hydroxysteroid Dehydrogenase Deficiency
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一名患有 3β-羟基类固醇脱氢酶缺乏症的 8 岁男孩的血浆和尿类固醇
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发表时间：
1970
期刊：
影响因子：
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通讯作者：
R. Vihko
中科院分区：
文献类型：
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作者：
O. Jänne;J. Perheentupa;R. Vihko
摘要 对一名 8 岁男性进行了血浆和尿类固醇检查，该男性在 1 个月大时首次出现，生殖器不明确。在研究时，患者仍处于失盐边缘，但即使在停止皮质醇替代疗法后仍表现良好。 17-酮类固醇、17-生酮类固醇、Porter-Silber色原和醛固酮的日排泄量分别为26mg、24mg、3.1mg和8.5μg。这些排泄物在促肾上腺皮质激素刺激下没有显着变化。通过气相色谱和气相色谱-质谱法鉴定血浆中性类固醇单硫酸盐和二硫酸盐以及尿中性类固醇单硫酸盐和二硫酸盐以及葡萄糖醛酸苷，并进行定量。在测量的化合物中，96%的血浆类固醇（总计1.4毫克/100毫升）和95%的尿液类固醇（总计103.85毫克/天）具有3β-羟基-Δ5结构。然而，还存在具有3α-羟基-5α、3β-羟基-5α、3α-羟基-5β和3α-羟基-ΔB结构的类固醇。麦...
ABSTRACT Plasma and urinary steroids were investigated in an 8-yr-old male first seen at the age of 1 month with ambiguous genitalia. At the time of the study the patient remained a borderline salt-loser but did well even after discontinuation of cortisol substitution therapy. The daily excretion of 17-ketosteroids, 17-ketogenic steroids, Porter-Silber chromogens and aldosterone was 26 mg, 24 mg, 3.1 mg and 8.5 μg, respectively. These excretions did not change significantly on corticotrophin stimulation. Plasma neutral steroid mono- and disulfates and urinary neutral steroid mono- and disulfates as well as glucuronides were identified by gas-liquid chromatography and gas chromatography-mass spectrometry and were quantified. Of the compounds measured, 96 % of the plasma steroids (total 1.4 mg/100 ml) and 95% of the urinary steroids (total 103.85 mg/day) had a 3β-hydroxy-Δ5 structure. However, steroids with a 3α-hydroxy-5α, 3β- hydroxy-5α, 3α-hydroxy-5β and 3α-hydroxy-ΔB structure were also present. The mai...