Department of Endocrinology, Birmingham Women's and Children's Hospital, Birmingham, UK.
Department of Endocrinology, Sheffield Children's Hospital, Sheffield, UK.
Horm Res Paediatr. 2024;97(4):315-325. doi: 10.1159/000533465. Epub 2023 Aug 23.
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) leads to impaired glucocorticoid and mineralocorticoid synthesis with excess production of androgens. Replication of the normal circadian cortisol secretion is challenging and supraphysiological doses of glucocorticoids are often required. Most patients experience transient episodes of hyper- and hypocortisolaemia during the day leading to adverse metabolic outcomes such as insulin resistance, visceral adiposity, and cardiovascular morbidity, including hypertension. These health problems are commonly diagnosed in adolescence and adulthood.
Herein, we review the published data on the variation in blood pressure in CAH due to 21OHD and the interrelation with disease and treatment factors.
Hypertension in childhood is a well-known risk factor for poor cardiovascular health in later life. Children with CAH have a higher prevalence of hypertension, which is more commonly transient. The prevalence is higher at younger ages, while relatively fewer patients remain hypertensive in adolescence, requiring antihypertensive treatment. Most studies suggest, transient hypertension in early childhood is associated with mineralocorticoid replacement; however, its direct association with adverse cardiovascular and metabolic outcome is not well established. There is insufficient evidence to support a relationship between hypertension and either glucocorticoid dose or salt supplementation in infancy. Androgen excess has been suggested as a possible reason for the absence of gender dimorphism in the incidence of hypertension and cardiovascular risks in CAH. There is no conclusive evidence for a direct association between hypertension and hyperandrogenism or insulin resistance. Increased carotid intima media thickness is commonly found in children with CAH and is thought to be driven by increased blood pressure.
21-羟化酶缺乏症（21OHD）导致先天性肾上腺皮质增生（CAH），从而影响糖皮质激素和盐皮质激素的合成，导致雄激素生成过多。复制正常的皮质醇昼夜节律分泌具有挑战性，通常需要超生理剂量的糖皮质激素。大多数患者在白天会经历短暂的高皮质醇血症和低皮质醇血症发作，导致代谢不良后果，如胰岛素抵抗、内脏肥胖和心血管发病率，包括高血压。这些健康问题通常在青少年和成年期诊断。
本文综述了 21OHD 导致 CAH 血压变化的已发表数据，以及与疾病和治疗因素的相互关系。
儿童期高血压是成年后心血管健康不良的已知危险因素。患有 CAH 的儿童高血压患病率较高，且更常见于一过性高血压。在年幼时，患病率更高，而在青春期，相对较少的患者仍然需要接受抗高血压治疗。大多数研究表明，儿童早期的短暂性高血压与盐皮质激素替代治疗有关；然而，其与不良心血管和代谢后果的直接关联尚未得到充分证实。没有足够的证据支持高血压与婴儿期糖皮质激素剂量或盐补充之间存在关系。雄激素过多被认为是 CAH 中高血压和心血管风险发生率无性别二态性的可能原因。没有确凿的证据表明高血压与高胰岛素血症或胰岛素抵抗直接相关。CAH 患儿常发现颈动脉内膜中层厚度增加，这被认为是由血压升高引起的。
