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血17α-羟孕酮(17α-OHP)测定是诊断和筛查新生儿先天性肾止腺皮质增生症(CAH)的可靠指标。CAH为遗传性分子代谢病。遗传方式AR。故再次妊娠复现率高达25％。临床表现可为女性男性化,男性性早熟,并伴有水电解质紊乱,严重者在幼儿期死亡。如能早期诊断、早期治疗,患儿能正常发育。因此发达国家已将同一新生儿足跟滤纸干血片共用于CAH、甲低和PKU的筛查。本文报告800例活产新生儿脐血17α-OHP固相放射免疫测定结果,以供临床参考。
Blood 17α-hydroxyprogesterone (17α-OHP) assay is a reliable indicator for the diagnosis and screening of neonatal congenital neoplasia of the gland hyperplasia (CAH). CAH is a hereditary molecular metabolic disease. Genetic mode AR. Therefore, the recurrence rate of pregnancy up to 25%. Clinical manifestations can be masculine, male precocious puberty, accompanied by water and electrolyte disorders, severe cases of death in early childhood. If early diagnosis, early treatment, children can develop normally. Therefore, the developed countries have the same newborn heel filter paper dried blood film shared CAH, hypothyroidism and PKU screening. In this paper, 800 cases of live birth neonatal umbilical blood 17α-OHP solid phase radioimmunoassay results for clinical reference.