Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan.
J Formos Med Assoc. 2010 Feb;109(2):148-55. doi: 10.1016/S0929-6646(10)60035-6.
BACKGROUND/PURPOSE: Data about the clinical manifestations of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (21-OHD) are lacking in Taiwan. Therefore, this study analyzed the clinical features of 21-OHD in Taiwanese children to improve the diagnosis of this disorder, and to provide background information regarding the ongoing neonatal screening program for 21-OHD in Taiwan.
Eighty children with 21-OHD, 39 with the salt-wasting (SW) type and 41 with the simple-virilizing (SV) type, were evaluated by a review of their medical records. Their clinical symptoms and signs, laboratory findings, and genetic mutations were analyzed.
The most frequent features in 21-OHD patients were hyperpigmentation and signs of androgen excess. Clinical manifestations related to hyponatremia such as poor feeding, poor weight gain, and dehydration were noted most frequently in patients with SW-type 21-OHD. Five patients had low serum cortisol with elevated plasma adrenocorticotropic hormone levels, and 22 patients had elevated dehydroepiandrosterone sulfate levels. All had elevated blood levels of 17-hydroxyprogesterone, androstenedione and testosterone. Hyponatremia and hyperkalemia were detected in 29 patients with SW-type 21-OHD. In terms of molecular diagnosis, mutations at IVS2-12A/C --> G and gene deletion were the most frequent mutations detected in SW-type 21-OHD, while I172N and mutation at IVS2-12A/C --> G were most frequent in SV type.
Taiwanese children with 21-OHD have characteristic clinical findings such as hyperpigmentation, androgen excess, and failure to thrive. There is a good correlation between genotype and pheno-type. Laboratory tests, including serum 17-hydroxyprogesterone, androstenedione, and testosterone levels are more sensitive than serum cortisol or dehydroepiandrosterone sulfate levels for diagnosing 21-OHD in prepubertal children.
背景/目的：在台湾，关于 21-羟化酶缺乏症（21-OHD）引起的先天性肾上腺增生的临床表现的数据较为缺乏。因此，本研究分析了台湾儿童 21-OHD 的临床特征，以提高对这种疾病的诊断能力，并为台湾正在进行的 21-OHD 新生儿筛查计划提供背景信息。
通过回顾病历，评估了 80 名 21-OHD 患儿的情况，其中 39 名为盐丢失型（SW），41 名为单纯男性化型（SV）。分析了他们的临床症状和体征、实验室检查结果和基因突变情况。
21-OHD 患者最常见的特征是皮肤色素沉着和雄激素过多的迹象。SW 型 21-OHD 患者最常出现与低钠血症相关的临床表现，如食欲不振、体重增长不良和脱水。5 名患者血清皮质醇水平低，血浆促肾上腺皮质激素水平升高，22 名患者脱氢表雄酮硫酸酯水平升高。所有患者的 17-羟孕酮、雄烯二酮和睾酮血液水平均升高。29 名 SW 型 21-OHD 患者出现低钠血症和高钾血症。在分子诊断方面，SW 型 21-OHD 中最常见的突变是 IVS2-12A/C-->G 和基因缺失，而 SV 型中最常见的突变是 I172N 和 IVS2-12A/C-->G。
台湾的 21-OHD 患儿具有特征性的临床表现，如皮肤色素沉着、雄激素过多和生长不良。基因型与表型之间存在良好的相关性。在青春期前儿童中，血清 17-羟孕酮、雄烯二酮和睾酮水平的检测比血清皮质醇或脱氢表雄酮硫酸酯水平的检测更敏感，可用于诊断 21-OHD。
