Cera Gianluca, Locantore Pietro, Novizio Roberto, Maggio Ettore, Ramunno Vittoria, Corsello Andrea, Policola Caterina, Concolino Paola, Paragliola Rosa Maria, Pontecorvi Alfredo
Unit of Endocrinology, Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore-Fondazione Policlinico "A. Gemelli" IRCCS, Largo Gemelli 8, 00168 Rome, Italy.
Unit of Clinical Chemistry, Biochemistry and Molecular Biology, Department of Laboratory and Infectiology Sciences, Università Cattolica del Sacro Cuore-Fondazione Policlinico "A. Gemelli" IRCCS, Largo Gemelli 8, 00168 Rome, Italy.
J Clin Med. 2022 Oct 19;11(20):6156. doi: 10.3390/jcm11206156.
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases that may cause cortisol insufficiency together with other hormonal alterations. The most common form is 21-hydroxylase deficiency, in which the lack of pituitary negative feedback causes an increase in ACTH and adrenal androgens. Classical forms of CAHs can lead to severe adrenal failure and female virilization. To date, the appropriate management of pregnant CAH patients is still debated regarding appropriate maternal therapy modifications during pregnancy and the risks and benefits of prenatal treatment of the fetus. We conducted a literature search of relevant papers to collect current evidence and experiences on the topic. The most recent and significant articles were selected, and current international guidelines were consulted to update current recommendations and guide clinical practice. Given the lack of randomized clinical trials and other high-quality scientific evidence, the issue is still debated, and great heterogeneity exists in current practice in terms of risk/benefit evaluation and pharmacological choices for pregnancy and prenatal treatment. Glucocorticoid therapy is advised not only in classical CAH patients but also in non-classical, milder forms. The choice of which glucocorticoid to use, and the safety and benefits of dexamethasone therapy aimed at preventing genital virilization are still debated issues. Several advances, however, have been made, especially in terms of fertility and reproduction. This review aims to present the most recent scientific and real-world updates on pregnancy and prenatal management of CAH, with the presentation of various clinical scenarios and specific case-by-case recommendations.
先天性肾上腺皮质增生症（CAH）是一组常染色体隐性疾病，可导致皮质醇缺乏以及其他激素改变。最常见的形式是21-羟化酶缺乏症，其中垂体负反馈的缺乏会导致促肾上腺皮质激素（ACTH）以及肾上腺雄激素增加。经典型CAH可导致严重的肾上腺功能衰竭和女性男性化。迄今为止，对于妊娠CAH患者的恰当管理，在孕期母体治疗调整以及胎儿产前治疗的风险和益处方面仍存在争议。我们对相关论文进行了文献检索，以收集该主题的现有证据和经验。挑选了最新且重要的文章，并参考了当前的国际指南以更新现有建议并指导临床实践。鉴于缺乏随机临床试验和其他高质量科学证据，该问题仍存在争议，并且在当前实践中，对于妊娠和产前治疗的风险/益处评估以及药物选择存在很大的异质性。不仅建议对经典型CAH患者进行糖皮质激素治疗，对非经典型、症状较轻的患者也应如此。使用哪种糖皮质激素以及地塞米松治疗以预防生殖器男性化的安全性和益处仍是有争议的问题。然而，已经取得了一些进展，尤其是在生育和生殖方面。本综述旨在介绍CAH妊娠和产前管理的最新科学和实际进展，并呈现各种临床情况以及具体的个案建议。
