URINARY-EXCRETION OF 17-HYDROXYPREGNANOLONES IN PATIENTS WITH DIFFERENT FORMS OF CONGENITAL ADRENAL-HYPERPLASIA DUE TO STEROID 21-HYDROXYLASE DEFICIENCY
URINARY-EXCRETION OF 17-HYDROXYPREGNANOLONES IN PATIENTS WITH DIFFERENT FORMS OF CONGENITAL ADRENAL-HYPERPLASIA DUE TO STEROID 21-HYDROXYLASE DEFICIENCY
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DOI：
10.1007/bf02073884
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发表时间：
1992-01-01
影响因子：
3.6
通讯作者：
TELLER, WM
中科院分区：
文献类型：
--
作者：
HOMOKI, J;SOLYOM, J;TELLER, WM
为了提高由类固醇21-羟化酶缺乏症引起的不同（经典盐消耗（SW）、经典单纯性男性化（SV）和非经典晚发性（LO））形式先天性肾上腺增生（CAH）的诊断标准，我们研究了17-羟基孕酮（17OH-PO（5- β）和（5- α））、15- β -羟基孕酮（15- β - oh - po）、妊娠三醇（PT）和11-氧孕三醇（11-O-PT）的尿排泄与氢化可的松代谢的比较。在出生后的第一个月，患有CAH-SW的新生儿从几乎无法检测到大量的17OH-PO(5- β)， 15- β - oh - po和PT， 14例中有12例在其尿液中也有11-O-PT。从出生第1天到28天，CAH-SW婴儿的尿液中几乎没有皮质醇代谢物。这与36名健康新生儿形成对比。我们测量了CAH患儿17OH-PO（5- α）的排泄量，其中19例CAH- sv患者17OH-PO（5- α）的中位排泄量为1110 μ g/天（范围：152-5515）。在21例CAH-LO患者中，17OH-PO（5- α）的中位排泄量为294 μ g/天（范围：66-1273）。除常规代谢产物17-羟孕酮（17OH-PO（5- β）、PT和11-O-PT）外，14例耻骨早熟患者、14例原因不明的男性化患者和94例年龄相当的健康儿童的尿液中未检测到17OH-PO（5- α）。17OH-PO（5- α）与四氢化可的松（The）比值在1 ~ 18岁CAH-SV和CAH-LO之间具有明显的区别。尿17OH-PO（5- α）的测定是诊断CAH-SV和CAH-LO的良好方法。
To improve diagnostic criteria in different (classical salt-wasting (SW), classical simple virilizing (SV) and non classical late onset (LO)) forms of congential adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency, we investigated the urinary excretion of 17-hydroxypregnanolones (17OH-PO(5-beta) and (5-alpha)), 15-beta-hydroxypregnanolone(15-beta-OH-PO), pregnanetriol (PT) and 11-oxo-pregnanetriol (11-O-PT) compared to hydrocortisone metabolities. During the 1st month of life newborn infants with CAH-SW excreted from barely detectable to very large amounts of 17OH-PO(5-beta), 15-beta-OH-PO and PT, and, in 12 of 14 cases, also 11-O-PT in their urines. From the 1st to the 28th day of life, cortisol metabolites were virtually absent in urines of CAH-SW infants. This was in contrast of 36 healthy newborn infants. We measured the excretion of 17OH-PO(5-alpha) in children with CAH of whom 19 patients with CAH-SV had a median 17OH-PO(5-alpha) excretion of 1110-mu-g/day (range: 152-5515). In 21 patients with CAH-LO, median excretion of 17OH-PO(5-alpha) was 294-mu-g/day (range: 66-1273). Besides the conventional metabolites of 17-hydroxyprogesterone (17OH-PO(5-beta), PT and 11-O-PT), no 17OH-PO(5-alpha) was detected in the urines of 14 patients with precocious pubarche, in 14 patients with virilization of unknown origin and in 94 healthy children of comparable age. The ratio of 17OH-PO(5-alpha) to tetrahydrocortisone (THE) discriminated between CAH-SV and CAH-LO from the 1st to the 18th year of age. The determination of urinary 17OH-PO(5-alpha) is an excellent diagnostic method in CAH-SV as well as CAH-LO.