Adrenal Function in Smith-Lemli-Opitz Syndrome
Adrenal Function in Smith-Lemli-Opitz Syndrome
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DOI：
10.1002/ajmg.a.34271
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发表时间：
2011-11-01
影响因子：
2
通讯作者：
Stratakis, Constantine A.
中科院分区：
文献类型：
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作者：
Bianconi, Simona E.;Conley, Sandra K.;Stratakis, Constantine A.
Smith-Lemli-Opitz综合征（SLOS）是由于7-脱氢胆固醇还原酶基因（DHCR 7）突变导致的多发性畸形综合征，其导致胆固醇合成不足和7-脱氢胆固醇积累。SLOS的临床范围从多种严重畸形到伴有轻微异常和智力残疾的轻度表型。一些儿童SLOS和肾上腺功能不全已被描述。我们对35名SLOS患者和16名年龄和性别匹配的对照者进行了绵羊促肾上腺皮质激素（oCRH）检测。我们回顾了我们的SLOS患者（35例中的19例）的促肾上腺皮质激素（ACTH）刺激试验，并回顾了另外10例SLOS患者的ACTH刺激试验结果。oCRH检测结果显示，SLOS患者的ACTH基线值显著高于健康对照组（24.8 +/- 15.3 pg/ml vs. 17.8 +/- 7.5 pg/ml，P=0.034）。然而，ACTH峰值无统计学显著差异（74.4 ± 35.0 pg/ml vs. 64.0 ± 24.9 pg/ml，P=0.303）和基线（14.2 ± 7.8 mcg/dl vs. 14.2 ± 6.3 mcg/dl，P=0.992）和皮质醇峰值（28.2 ± 7.9 mcg/dl vs. 24.8 ± 8.1 mcg/dl，P=0.156）。与对照组相比，SLOS患者ACTH（250.1 +/- 118.7 pg/ml vs. 195.3 +/- 96.6 pg/ml，P=0.121）和皮质醇分泌（83.1 +/- 26.1 mcg/dl vs. 77.8 +/- 25.9 mcg/dl，P=0.499）的曲线下面积（AUC）无显著差异。ACTH刺激试验结果在29项试验中有28项正常。具有异常测试结果的个体随后具有正常的oCRH测试。在oCRH测试中观察到的基线ACTH水平略微升高可能是由于代偿性肾上腺皮质功能不全。然而，我们能够证明我们的SLOS患者有足够的糖皮质激素反应，因此，在轻至中度的SLOS病例中，可能不需要类固醇的压力覆盖。2011年出版。本条目属于美国政府作品，在美国属于公有领域。
Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation syndrome due to mutations of the 7-dehydrocholesterol reductase gene (DHCR7), which leads to a deficiency of cholesterol synthesis and an accumulation of 7-dehydrocholesterol. The SLOS clinical spectrum ranges from multiple major malformations to a mild phenotype with minor anomalies and intellectual disability. Several children with SLOS and adrenal insufficiency have been described. We performed ovine corticotropin (oCRH) testing in 35 SLOS patients and 16 age-and gender-matched controls. We reviewed prior adrenocorticotropin (ACTH) stimulation tests of our SLOS patients (19 of 35 available) and reviewed results of ACTH stimulation tests from 10 additional SLOS patients. Results from oCRH testing showed that patients with SLOS had significantly higher ACTH baseline values than healthy controls (24.8 +/- 15.3 pg/ml vs. 17.8 +/- 7.5 pg/ml, P=0.034). However, no statistically significant differences were noted for peak ACTH values (74.4 +/- 35.0 pg/ml vs. 64.0 +/- 24.9 pg/ml, P=0.303) and for baseline (14.2 +/- 7.8 mcg/dl vs. 14.2 +/- 6.3 mcg/dl, P=0.992) and peak cortisol values (28.2 +/- 7.9 mcg/dl vs. 24.8 +/- 8.1 mcg/dl, P=0.156). The area-under-the-curve (AUC) was not significantly different in SLOS patients compared to controls for both ACTH (250.1 +/- 118.7 pg/ml vs. 195.3 +/- 96.6 pg/ml, P=0.121) as well as cortisol secretion (83.1 +/- 26.1 mcg/dl vs. 77.8 +/- 25.9 mcg/dl, P=0.499). ACTH stimulation test results were normal in 28 of 29 tests. The individual with the abnormal test results had subsequent normal oCRH tests. The slightly increased baseline ACTH level seen during oCRH testing may be due to compensated adrenocortical insufficiency. However, we were able to show that our patients with SLOS had an adequate glucocorticoid response, and thus, in mild to moderate cases of SLOS stress steroid coverage may not be warranted. Published 2011. This article is a U.S. Government work and is in the public domain in the USA.