Wudy S A, Homoki J, Teller W M
Steroidlabor, Universitätskinderklinik und Poliklinik Ulm.
Klin Padiatr. 1996 Nov-Dec;208(6):334-8. doi: 10.1055/s-2008-1046493.
Using stable isotope dilution/gas chromatography-mass spectrometry, we determined the plasma concentrations of 5 alpha-androstane-3 alpha,17 beta-diol (AD) and 5 alpha-androstane-3 alpha,17 beta-diol-glucuronide (ADG) in 20 patients with premature pubarche (16 patients with idiopathic premature pubarche, 4 patients with late onset 21-hydroxylase deficiency) and in 55 healthy children with Tanner stages P1 to P4. No differences between sexes were found in healthy children with Tanner stages P1 and P2. Patients with idiopathic premature pubarche (median, range, nmol/1: 0.22; 0.12-0.31) or late onset 21-hydroxylase deficiency (0.27; 0.23-0.29) had higher plasma AD concentrations than healthy prepubertal children (0.09; 0.00-0.17). Regarding ADG, patients with idiopathic precocious puberty (1.35; 0.25-4.74) or late onset 21-hydroxylase deficiency (4.01; 3.50-4.58) had also higher plasma concentrations than healthy prepubertal children (0.35; 0.00-0.75). Thus, AD and ADG, which both represent end metabolites of peripheral androgen metabolism, can be regarded as markers of androgenicity. Steroid analysis by mass spectrometry is recommended, whenever uncertainties of immunological determinations are to be avoided.
我们采用稳定同位素稀释/气相色谱-质谱分析法，测定了20例青春期前阴毛早现患者（16例特发性青春期前阴毛早现患者，4例迟发型21-羟化酶缺乏症患者）以及55例坦纳分期为P1至P4的健康儿童血浆中5α-雄甾烷-3α,17β-二醇（AD）和5α-雄甾烷-3α,17β-二醇葡萄糖醛酸苷（ADG）的浓度。在坦纳分期为P1和P2的健康儿童中，未发现性别差异。特发性青春期前阴毛早现患者（中位数，范围，nmol/1：0.22；0.12 - 0.31）或迟发型21-羟化酶缺乏症患者（0.27；0.23 - 0.29）的血浆AD浓度高于青春期前健康儿童（0.09；0.00 - 0.17）。关于ADG，特发性性早熟患者（1.35；0.25 - 4.74）或迟发型21-羟化酶缺乏症患者（4.01；3.50 - 4.58）的血浆浓度也高于青春期前健康儿童（0.35；0.00 - 0.75）。因此，AD和ADG均代表外周雄激素代谢的终末代谢产物，可被视为雄激素活性的标志物。每当需要避免免疫测定的不确定性时，建议采用质谱法进行类固醇分析。
