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本文研究血17-羟孕酮(17-OHP)、皮质醇(F)、硫酸去氢表雄酮(DHEA-S)及睾丸酮(T)在诊断21-羟化酶缺乏所致的晚发型先天性肾上腺增生病例方面的意义。研究对象是68例3～18岁处于儿童期、青春期及青春后期的女性男性化病人。其出生时外生殖器均未见异常,但在随访研究中发现这些病人至少具备以下4种体征之一:即阴蒂增大、阴毛早生、渐进性多毛及重度痤疮。作者首先检测这些病人的基础血清17-OHP(早上7时～9时),已行经者在卵泡中期第5～10天进行。结果 68例中21例6～18岁病人血17-OHP 值>50nmol/L(正常1～10nmol/L)。这21例病人再做促皮质素(ACTH)刺激试验,以ACTH0.25mg 静注(n=15)或合成皮质素(tetracosactide)1.0mg 肌注(n=6),分别于试验前及用 ACTH 后1h 或6h 取血查17-OHP、F、T 及DHEA-S。同时选出8名18～24岁正常女性,13例24～36岁的21-羟化酶缺乏病人家属(杂合子)和11例1～14岁典型的21-羟化酶缺乏病人作为对照.结果发现 ACTH 刺激后21例女性男性化病人
In this study, we investigated the effects of 17-OHP, C, DHEA-S and testosterone (T) on the diagnosis of late-onset congenital birth due to 21-hydroxylase deficiency The significance of adrenal hyperplasia cases. The study population was 68 male masculine women aged 3-18 years old in childhood, adolescence and adolescence. No abnormalities were found in the genitals at birth, but at follow-up, these patients were found to have at least one of the following four signs: increased clitoral, pubococcal birth, progressive hirsutism, and severe acne. The authors first tested these patients’ basal serum 17-OHP (7:00 am to 9:00 am), and those who had passed through on the 5th to 10th follicle metaphase. Results In 68 cases of 21 patients aged 6 to 18 years, the blood 17-OHP value> 50nmol / L (normal 1 ~ 10nmol / L). The 21 patients underwent corticotropin-stimulating (ACTH) stimulation test with ACTH 0.25 mg intravenously (n = 15) or tetracosactide 1.0 mg intramuscularly (n = 6) After 1h or 6h blood test 17-OHP, F, T and DHEA-S. At the same time, 8 normal women aged 18-24 years, 13 cases of 21- hydroxylase-deficient patients (heterozygous) from 24 to 36 years old and 11 cases of typical 21-hydroxylase deficiency from 1 to 14 years old were selected as the control. The results found that 21 cases of ACTH-induced masculine females