Endocrinology Unit, Department of Medicine-DIMED, University-Hospital of Padova, Padova, Italy.
Front Endocrinol (Lausanne). 2022 Aug 1;13:934675. doi: 10.3389/fendo.2022.934675. eCollection 2022.
Since the introduction of glucocorticoid (GC) replacement therapy, congenital adrenal hyperplasia (CAH) is no longer a fatal disease. The development of neonatal screening programs and the amelioration of GC treatment strategies have improved significantly life expectancy in CAH patients. Thanks to these achievements, CAH patients are now in their adulthood, but an increased incidence of cardiovascular risk factors has been reported compared to general population in this stage of life. The aim of CAH treatment is to both prevent adrenal insufficiency and suppress androgen excess; in this delicate balance, under- as well as overtreatment might be equally harmful to long-term cardiovascular health. This work examines the prevalence of metabolic features and cardiovascular events, their correlation with hormone levels and GC replacement regimen in CAH patients and focuses on precocious markers to early detect patients at higher risk and new potential treatment approaches.
自从引入糖皮质激素（GC）替代疗法以来，先天性肾上腺皮质增生症（CAH）已不再是一种致命疾病。新生儿筛查计划的发展和 GC 治疗策略的改善，显著提高了 CAH 患者的预期寿命。由于这些成就，CAH 患者现在已经成年，但与普通人群相比，在这个生命阶段，心血管风险因素的发病率有所增加。CAH 的治疗目的是预防肾上腺功能不全和抑制雄激素过多；在这种微妙的平衡中，治疗不足和过度治疗对长期心血管健康同样有害。这项工作研究了 CAH 患者代谢特征和心血管事件的患病率，及其与激素水平和 GC 替代方案的相关性，并重点关注早期发现高危患者的早熟标志物和新的潜在治疗方法。
