Fiet J, Gueux B, Raux-DeMay M C, Kuttenn F, Vexiau P, Brerault J L, Couillin P, Galons H, Villette J M, Julien R
Laboratoire de Biochimie, Hôpital Saint-Louis, Paris, France.
J Clin Endocrinol Metab. 1989 Mar;68(3):542-7. doi: 10.1210/jcem-68-3-542.
Plasma 21-deoxycorticosterone (21-DB) concentrations were measured before (basal) and 1 h after ACTH stimulation in a population of 34 normal subjects, 18 patients with the late-onset form of congenital adrenal hyperplasia (LO-CAH) due to 21-hydroxylase deficiency, and 19 LOCAH heterozygotes. For comparison, plasma 21-deoxycortisol (21-DOF) and 17-hydroxyprogesterone (17-OHP) were determined simultaneously in the same subjects. Plasma 21-DB concentrations as well as those of 21-DOF did not vary significantly as a function of age, sex, or phase of the menstrual cycle, in contrast to plasma 17-OHP. The mean plasma 21-DB concentrations in normal subjects (adult men, follicular and luteal phase women, and children) were 19.0 +/- 9.5 (+/- SD) pmol/L before and 73.2 +/- 31.0 after ACTH stimulation. In the LOCAH patient group, the mean post-ACTH plasma 21-DB concentration was 1736.0 +/- 1243.0 pmol/L, and all values were above the highest post-ACTH value (148.2 pmol/L) in the normal subjects. Similarly, in the LOCAH patients the post-ACTH plasma 21-DOF concentration was 33.7 +/- 20.3 nmol/L, and the post-ACTH plasma 17-OHP value was 134.0 +/- 70.6 nmol/L; all LOCAH patients had supranormal responses to ACTH. However, 38.9%, 11.2% and 16.7% of the basal plasma 21-DB, 21-DOF, and 17-OHP values in the LOCAH patients overlapped those in the normal subjects. There was a rather large overlap (63.2%) in post-ACTH plasma 21-DB levels between the LOCAH heterozygotes and the normal subjects; it was less than the overlap in plasma 17-OHP (74%) and more than the overlap in plasma 21-DOF values (5.2%) in these same 2 groups. There was moderate overlap (21%) in the post-ACTH plasma 21-DB levels between the LOCAH heterozygotes and LOCAH patients, but no overlap between these 2 groups for either 21-DOF or 17-OHP. The abnormally elevated post-ACTH plasma 21-DB levels found in all the LOCAH patients as well as in some LOCAH heterozygotes suggest the existence of minor 21-hydroxylase deficiency in the mineralocorticoid synthetic pathway in these patients in addition to the well known impairment in the glucocorticoid pathway demonstrated by the elevated post-ACTH 21-DOF and 17-OHP levels.
在34名正常受试者、18名因21 - 羟化酶缺乏导致迟发型先天性肾上腺皮质增生症（LO - CAH）的患者以及19名LO - CAH杂合子中，测量了促肾上腺皮质激素（ACTH）刺激前（基础值）和刺激后1小时的血浆21 - 脱氧皮质酮（21 - DB）浓度。作为对照，同时在相同受试者中测定了血浆21 - 脱氧皮质醇（21 - DOF）和17 - 羟孕酮（17 - OHP）。与血浆17 - OHP不同，血浆21 - DB以及21 - DOF的浓度并不随年龄、性别或月经周期阶段而有显著变化。正常受试者（成年男性、卵泡期和黄体期女性以及儿童）的血浆21 - DB基础平均浓度为19.0±9.5（±标准差）pmol/L，ACTH刺激后为73.2±31.0 pmol/L。在LO - CAH患者组中，ACTH刺激后血浆21 - DB的平均浓度为1736.0±1243.0 pmol/L，所有数值均高于正常受试者ACTH刺激后的最高值（148.2 pmol/L）。同样，在LO - CAH患者中，ACTH刺激后血浆21 - DOF浓度为33.7±20.3 nmol/L，ACTH刺激后血浆17 - OHP值为134.0±70.6 nmol/L；所有LO - CAH患者对ACTH均有超正常反应。然而，LO - CAH患者基础血浆21 - DB、21 - DOF和17 - OHP值分别有38.9%、11.2%和16.7%与正常受试者的数值重叠。LO - CAH杂合子与正常受试者之间ACTH刺激后血浆21 - DB水平存在相当大的重叠（63.2%）；这一重叠程度小于血浆17 - OHP（74%），且大于同一两组中血浆21 - DOF值的重叠（5.2%）。LO - CAH杂合子与LO - CAH患者之间ACTH刺激后血浆21 - DB水平存在中度重叠（21%），但这两组在21 - DOF或17 - OHP方面无重叠。所有LO - CAH患者以及部分LO - CAH杂合子中ACTH刺激后血浆21 - DB水平异常升高，这表明除了ACTH刺激后21 - DOF和17 - OHP水平升高所显示的糖皮质激素途径的已知损害外，这些患者的盐皮质激素合成途径中还存在轻微的21 - 羟化酶缺乏。
