Department of Neuropediatrics, Children's Hospital, Ruhr University of Bochum, Bochum, Germany.
Horm Res Paediatr. 2012;77(3):195-9. doi: 10.1159/000337974. Epub 2012 Apr 13.
21-Hydroxylase deficiency (21-OHD) is the target disease of newborn screening for congenital adrenal hyperplasia (CAH). We describe the additional detection of patients suffering from 11β-hydroxylase deficiency (11-OHD) by second-tier testing.
Over a period of 5 years, screening for CAH was done in a total of 986,098 newborns by time-resolved immunoassay (DELFIA®) for 17α-hydroxyprogesterone (17-OHP). Positive samples were subsequently analyzed in an LC-MS/MS second-tier test including 17-OHP, cortisol, 11-deoxycortisol, 4-androstenedione and 21-deoxycortisol.
In addition to 78 cases of 21-OHD, 5 patients with 11-OHD were identified. Diagnostic parameters were a markedly elevated concentration of 11-deoxycortisol in the presence of a low level of cortisol. Androstenedione was also increased. In contrast to 21-OHD, concentrations of 21-deoxycortisol were normal.
Steroid profiling in newborn blood samples showing positive results in immunoassays for 17-OHP allows for differentiating 21-OHD from 11-OHD. This procedure may not detect all cases of 11-OHD in the newborn population because there may be samples of affected newborns with negative results for 17-OHP in the immunoassay.
21-羟化酶缺乏症（21-OHD）是先天性肾上腺皮质增生症（CAH）新生儿筛查的目标疾病。我们描述了通过二级检测额外发现 11β-羟化酶缺乏症（11-OHD）患者的情况。
在 5 年期间，通过时间分辨免疫测定（DELFIA®）对 986098 例新生儿进行 CAH 筛查，检测 17α-羟孕酮（17-OHP）。阳性样本随后通过 LC-MS/MS 二级测试进行分析，该测试包括 17-OHP、皮质醇、11-脱氧皮质醇、4-雄烯二酮和 21-脱氧皮质醇。
除了 78 例 21-OHD 病例外，还发现了 5 例 11-OHD 患者。诊断参数为皮质醇水平低而 11-脱氧皮质醇浓度显著升高，同时雄烯二酮也增加。与 21-OHD 不同，21-脱氧皮质醇浓度正常。
在免疫测定中显示 17-OHP 阳性的新生儿血样中的类固醇谱分析可区分 21-OHD 与 11-OHD。该程序可能无法检测新生儿人群中所有的 11-OHD 病例，因为免疫测定中可能存在受影响的新生儿样本 17-OHP 检测结果为阴性。
