[1]郭伟红,何庆.21-羟化酶缺陷症的围妊娠期管理研究进展[J].国际内分泌代谢杂志,2023,43(02):128-131.[doi:10.3760/cma.j.cn121383-20211202-12006]
　Guo Weihong,He Qing..Peripregnancy management of 21-hydroxylase deficiency[J].International Journal of Endocrinology and Metabolism,2023,43(02):128-131.[doi:10.3760/cma.j.cn121383-20211202-12006]
点击复制

21-羟化酶缺陷症的围妊娠期管理研究进展()
分享到：

《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
43
期数:
2023年02期
页码:
128-131
栏目:
综述
出版日期:
2023-03-20

文章信息/Info

Title:
Peripregnancy management of 21-hydroxylase deficiency
作者:
郭伟红; 何庆
天津医科大学总医院内分泌代谢科,天津 300052
Author(s):
Guo Weihong;  He Qing.
Department of Endocrinology and Metabolism, Tianjin Medical University General Hospital, Tianjin 300052, China
关键词:
21-羟化酶缺陷症;  先天性肾上腺皮质增生症;  围妊娠期;  糖皮质激素
Keywords:
21-hydroxylase deficiency;  Congenital adrenal hyperplasia;  Peripregnancy;  Glucocorticoid
DOI:
10.3760/cma.j.cn121383-20211202-12006
摘要:
21-羟化酶缺陷症是先天性肾上腺皮质增生症中最常见的类型,近年随着人们对生育要求的提高,21-羟化酶缺陷症女性患者围妊娠期的管理受到广泛关注。为了减轻未出生婴儿的男性化程度并提高活产率,孕前病情控制及遗传咨询、妊娠期药物剂量及种类的调整及监测标志物的选择、分娩时糖皮质激素应激剂量的调整、治疗中如何避免肾上腺危象、产后和哺乳期药物剂量调整及非经典先天性肾上腺皮质增生症围妊娠期的治疗等均需进一步规范。本文将针对相关管理策略和治疗的现状及研究进展进行综述。
Abstract:
21-hydroxylase deficiency is the most common form of congenital adrenal cortex(CAH). In recent years, with the improvement of fertility requirements, perinatal management of female patients with congenital adrenal hyperplasia(CAH)has attracted more and more attention. In order to reduce the degree of masculinity of the affected unborn babies and improve the live birth rate, disease control and genetic counseling before pregnancy, adjustment of drug dosage and type during pregnancy and selection of monitoring markers, adjustment of glucocorticoid dose during delivery, how to avoid adrenal crisis in treatment, drug dose adjustment during postpartum and lactation and treatment of non-classical CAH during pregnancy need to be further standardized. This article reviews the current status and research progress of related manage strategies and treatments.

参考文献/References:

[1] Podgórski R,Aebisher D,Stompor M,et al.Congenital adrenal hyperplasia:clinical symptoms and diagnostic methods[J].Acta Biochim Pol,2018,65(1):25-33.DOI:10.18388/abp.2017-2343.
[2] Merke DP,Auchus RJ.Congenital adrenal hyperplasia due to 21-hydroxylase deficiency[J].N Engl J Med,2020,383(13):1248-1261.DOI:10.1056/NEJMra1909786.
[3] Gomes LG,Bachega TASS,Mendonca BB.Classic congenital adrenal hyperplasia and its impact on reproduction[J].Fertil Steril,2019,111(1):7-12.DOI:10.1016/j.fertnstert.2018.11.037.
[4] Hannah-Shmouni F,Chen W,Merke DP.Genetics of congenital adrenal hyperplasia[J].Endocrinol Metab Clin North Am,2017,46(2):435-458.DOI:10.1016/j.ecl.2017.01.008.
[5] Casteràs A,De Silva P,Rumsby G,et al.Reassessing fecundity in women with classical congenital adrenal hyperplasia(CAH):normal pregnancy rate but reduced fertility rate[J].Clin Endocrinol(Oxf),2009,70(6):833-837.DOI:10.1111/j.1365-2265.2009.03563.x.
[6] Jiang S,Kuang Y.The cycle characteristics and outcomes of infertile nonclassic 21-hydroxylase deficiency patients undergoing ovarian stimulation for in vitro fertilization[J].Horm Metab Res,2019,51(5):315-325.DOI:10.1055/a-0893-3122.
[7] Langlois F,Lim DST,Fleseriu M.Update on adrenal insufficiency:diagnosis and management in pregnancy[J].Curr Opin Endocrinol Diabetes Obes,2017,24(3):184-192.DOI:10.1097/MED.0000000000000331.
[8] Manoharan M,Sinha P,Sibtain S.Adrenal disorders in pregnancy,labour and postpartum - an overview[J].J Obstet Gynaecol,2020,40(6):749-758.DOI:10.1080/01443615.2019.1648395.
[9] Speiser PW,Arlt W,Auchus RJ,et al.Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency:an Endocrine Society Clinical Practice Guideline[J].J Clin Endocrinol Metab,2018,103(11):4043-4088.DOI:10.1210/jc.2018-01865.
[10] Karlsson L,Nordenström A,Hirvikoski T,et al.Prenatal dexamethasone treatment in the context of at risk CAH pregnancies:long-term behavioral and cognitive outcome[J].Psychoneuroendocrinology,2018,91:68-74.DOI:10.1016/j.psyneuen.2018.02.033.
[11] Van't Westeinde A,Karlsson L,Nordenström A,et al.First-trimester prenatal dexamethasone treatment is associated with alterations in brain structure at adult age[J].J Clin Endocrinol Metab,2020,105(8):2575-2586.DOI:10.1210/clinem/dgaa340.
[12] Bornstein SR,Allolio B,Arlt W,et al.Diagnosis and treatment of primary adrenal insufficiency:an Endocrine Society Clinical Practice Guideline[J].J Clin Endocrinol Metab,2016,101(2):363-389.DOI:10.1210/jc.2015-1710.
[13] Amadori P.Reduced need of glucocorticoid therapy in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency during pregnancy[J].J Endocrinol Invest,2006,29(9):848-850.DOI:10.1007/BF03347382.
[14] Ng SM,Stepien KM,Krishan A.Glucocorticoid replacement regimens for treating congenital adrenal hyperplasia[J].Cochrane Database Syst Rev,2020,3(3):CD012517.DOI:10.1002/14651858.CD012517.pub2.
[15] Bulska M,Szczesniak P,Pieta-Dolinska A,et al.Different modes of delivery and hormonal stress response[J].Ginekol Pol,2021; 92(7):481-486.DOI:10.5603/GP.a2021.0068.
[16] Ryu RJ,Easterling TR,Caritis SN,et al.Prednisone pharmacokinetics during pregnancy and lactation[J].J Clin Pharmacol,2018,58(9):1223-1232.DOI:10.1002/ jcph.1122.
[17] Zengin Karahan S,Boz C,Terzi M,et al.Methylprednisolone concentrations in breast milk and serum of patients with multiple sclerosis treated with IV pulse methylprednisolone[J].Clin Neurol Neurosurg,2020,197:106118.DOI:10.1016/ j.clineuro.2020.106118.
[18] Lousada LM,Mendonca BB,Bachega TASS.Adrenal crisis and mortality rate in adrenal insufficiency and congenital adrenal hyperplasia[J].Arch Endocrinol Metab, 2021,65(4):488-494.DOI:10.20945/2359-3997000000392.
[19] Hahner S,Spinnler C,Fassnacht M,et al.High incidence of adrenal crisis in educated patients with chronic adrenal insufficiency:a prospective study[J].J Clin Endocrinol Metab,2015,100(2):407-416.DOI:10.1210/jc.2014-3191.
[20] Carmina E,Dewailly D,Escobar-Morreale HF,et al.Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited:an update with a special focus on adolescent and adult women[J].Hum Reprod Update,2017,23(5):580-599.DOI:10.1093/humupd/dmx014.

相似文献/References:

[1]马婧,杜雅丽,权金星.17α-羟化酶缺陷症诊治研究进展[J].国际内分泌代谢杂志,2020,40(05):323.[doi:10.3760/cma.j.cn121383-20200201-02001]
　Ma Jing,Du Yali,Quan Jinxing.Research progress of diagnosis and treatment of 17α-hydroxylase deficiency[J].International Journal of Endocrinology and Metabolism,2020,40(02):323.[doi:10.3760/cma.j.cn121383-20200201-02001]
[2]曾少豪,单双红,何君瑜,等.血清17羟孕酮升高的临床鉴别诊断思路[J].国际内分泌代谢杂志,2023,43(06):485.[doi:10.3760/cma.j.cn121383-20221209-12020]
　Zeng Shaohao,Shan Shuanghong,He Junyu,et al.Clinical interpretation of elevated serum 17 hydroxyprogesterone levels[J].International Journal of Endocrinology and Metabolism,2023,43(02):485.[doi:10.3760/cma.j.cn121383-20221209-12020]

备注/Memo

备注/Memo:
基金项目:天津市医学重点学科(专科)建设项目(TJYXZDXK-030A)
通信作者:何庆,Email:hech69@163.com
更新日期/Last Update: 2023-04-15