Cacciari E, Balsamo A, Cassio A, Piazzi S, Bernardi F, Salardi S, Cicognani A, Pirazzoli P, Zappulla F, Capelli M, Paolini M
Horm Res. 1982;16(1):4-9. doi: 10.1159/000179479.
We examined 22,233 infants born in Emilia-Romagna (Italy). Capillary blood samples for 17-OH-progesterone assay were collected on the 3rd, 4th, 5th, 6th or 7th day of life on filter paper of the same type used for the screening of aminoacidopathy and hypothyroidism. 17-OH-progesterone values were determined using a micromethod modified from that of Pang and co-workers. 20 pg/disk was considered as a threshold value and called for a second assay, which was performed in 0.18% of the cases. Pathologic values of 17-OH-progesterone were confirmed in the serum of 4 neonates. In our population the incidence of 21-hydroxylase deficiency was found to be 1 out of 5,558 cases.
我们对在意大利艾米利亚 - 罗马涅出生的22233名婴儿进行了检查。在出生后第3、4、5、6或7天，采集用于检测17 - 羟基孕酮的毛细血管血样，血样采集于用于筛查氨基酸病和甲状腺功能减退症的同类型滤纸上。使用从庞及其同事的方法改良而来的微量法测定17 - 羟基孕酮值。20 pg/盘被视为阈值，当达到该阈值时需进行第二次检测，在0.18%的病例中进行了第二次检测。在4名新生儿的血清中证实了17 - 羟基孕酮的病理值。在我们的研究人群中，发现21 - 羟化酶缺乏症的发病率为每5558例中有1例。
