Shackleton C H, Honour J W, Dillon M, Milla P
Acta Endocrinol (Copenh). 1976 Apr;81(4):762-73. doi: 10.1530/acta.0.0810762.
The urinary steroids excreted by an infant with a salt-wasting syndrome due to a suspected defect in the 18-oxidation of corticosterone have been analysed by gas chromatography-mass spectrometry. The excretion of tetrahydroaldosterone was low (3.5 mug/24 h) whilst the excretion of 3alpha,11beta,21-trihydroxy-5alpha-pregnan-20-one (allo-tetrahydrocorticosterone) and other corticosterone metabolites was high (total about 2 mg/24 h). The excretion of cortisol metabolites was apparently normal for age (total about 2 mg/24 h) but 3alpha,11beta,17alpha,21-tetrahydroxy-5alpha-pregnan-20-one (allo-tetrahydrocortisol) rather than tetrahydrocortisone, was the major component of the group. The excretion of an 18-hydroxycorticosterone metabolite 3alpha,18,21-trihydroxy-5beta-pregnane-11,20-dione (18-hydroxytetrahydroCompound A) was higher than normal for infants of this age (between 50 and 200 mug/24 h), suggesting that the defect was in 18-hydroxysteroid dehydrogenase rather than 1,-hydroxylase. In addition, 18-hydroxytetrahydrocorticosterone, another metabolite of 18-hydroxycorticosterone was tentatively identified and it was found that the rate of excretion of this compound was of similar magnitude to 18-hydroxytetrahydroCompound A. The salt balance of the infant has been sucessfully controlled by salt administration (77 mEq./24 h) and treatment with Fludrocortisone (0.5 mg/day).
一名因疑似皮质酮18-氧化缺陷而患有失盐综合征的婴儿所排泄的尿甾体，已通过气相色谱-质谱联用技术进行了分析。四氢醛固酮的排泄量较低（3.5微克/24小时），而3α,11β,21-三羟基-5α-孕烷-20-酮（别四氢皮质酮）和其他皮质酮代谢物的排泄量较高（总量约2毫克/24小时）。皮质醇代谢物的排泄量在该年龄组中显然正常（总量约2毫克/24小时），但该组的主要成分是3α,11β,17α,21-四羟基-5α-孕烷-20-酮（别四氢皮质醇），而非四氢可的松。一种18-羟皮质酮代谢物3α,18,21-三羟基-5β-孕烷-11,20-二酮（18-羟基四氢化合物A）的排泄量高于该年龄婴儿的正常水平（50至200微克/24小时之间），这表明缺陷在于18-羟类固醇脱氢酶而非18-羟化酶。此外，还初步鉴定出了18-羟皮质酮的另一种代谢物18-羟基四氢皮质酮，并且发现该化合物的排泄速率与18-羟基四氢化合物A的排泄速率相似。通过补充盐分（77毫当量/24小时）和使用氟氢可的松（0.5毫克/天）进行治疗，该婴儿的盐平衡已得到成功控制。
