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先天性肾上腺皮质增生症是由于皮质类固醇激素合成酶的先天性缺陷导致皮质类固醇部分或完全缺失、雄激素合成过多的一种常染色体隐形遗传病。雄激素产生过多及糖皮质激素的缺乏不仅导致成年男女的生殖生育能力下降,而且对于妊娠及子代可产生不良的近远期影响。本文在文献综述基础上剖析21-OHD患者生育力下降的原因及对妊娠及子代的影响,旨在为21-OHD患者个体化的围孕期管理提供思路。
Congenital adrenal hyperplasia is due to congenital defects of corticosteroid synthase leading to partial or complete absence of corticosteroids, and hyperandrogenism is an autosomal recessive genetic disease. Androgen excess and lack of glucocorticoids not only lead to a decline in reproductive and reproductive capacity in adult men and women, but also have adverse short-term and long-term effects on pregnancy and offspring. Based on the literature review, this paper analyzes the reasons for the decline of fertility in 21-OHD patients and its impact on pregnancy and offspring, and aims to provide ideas for individualized perinatal management in 21-OHD patients.