21-羟化酶缺乏症的围孕期管理  

Peri-pregnancy management of 21 hydroxylase deficiency

作　　者：杨海燕[1] 秦映芬[1] YANG Hai-yan;QIN Ying-fen(Endocrinology Department,First Affiliated Hospital of Guangxi Medical University,Nanning 530021,China)

机构地区：[1]广西医科大学第一附属医院内分泌科,广西南宁530021

出　　处：《中国实用内科杂志》2024年第11期890-895,共6页Chinese Journal of Practical Internal Medicine

摘　　要：21-羟化酶缺乏症(21-OHD)是最常见的先天性肾上腺皮质增生症类型。虽然21-OHD的妇女生育能力下降,但仍能够妊娠。备孕双方应在孕前进行基因检测并咨询遗传专家,必要时利用体外受精、植入前基因检测等手段优生优育。21-OHD女性在孕前、妊娠期、分娩时和产后需要调整糖皮质激素及盐皮质激素,避免肾上腺危象。21-OHD女性在围孕期的监测指标、产前诊断和治疗及产后管理均有相应推荐,整个围产期需要有经验的内分泌科、产科及遗传咨询专家共同管理。The 21-hydroxylase deficiency(21-OHD)is the most common type of congenital adrenal hyperplasia.Although women with 21-OHD have declined fertility,they are still able to conceive.Both parties preparing for pregnancy should undergo genetic testing and consult genetic experts before pregnancy.If necessary,the methods such as in vitro fertilization and preimplantation genetic testing should be used to achieve optimal fertility.The 21-OHD women need to adjust glucocorticoids and mineralocorticoids before and during pregnancy,as well as on and after delivery,and postpartum,and should avoid adrenal crisis.We also have corresponding recommendations for monitoring indicators,prenatal diagnosis and treatment,and postpartum management during the perinatal period for 21-OHD female.The entire perinatal period requires experienced endocrinology,obstetrics,and genetic counseling experts to jointly manage.

关 键 词：21-羟化酶缺乏症 生育 妊娠 产前治疗 糖皮质激素 

分 类 号：R58[医药卫生—内分泌]