Department of Diabetes and Endocrinology, St Peter's NHS Foundation Trust, Guildford Road, Chertsey, Surrey KT16 0PZ, UK.
BHF Centre for Cardiovascular Science, Queen's Medical Research Institute, University of Edinburgh, 47 Little France Crescent, Edinburgh EH16 4TJ, UK.
Nat Rev Endocrinol. 2014 Feb;10(2):115-24. doi: 10.1038/nrendo.2013.239. Epub 2013 Dec 17.
Congenital adrenal hyperplasia (CAH) is a genetic disorder caused by defective steroidogenesis that results in glucocorticoid deficiency; the most common underlying mutation is in the gene that encodes 21-hydroxylase. Life-saving glucocorticoid treatment was introduced in the 1950s, and the number of adult patients is now growing; however, no consensus has been reached on the management of CAH beyond childhood. Adult patients are prescribed a variety of glucocorticoids, including hydrocortisone, prednisone, prednisolone, dexamethasone and combinations of these drugs taken in either a circadian or reverse circadian regimen. Despite these personalized treatments, biochemical control of CAH is only achieved in approximately one-third of patients. Some patients have a poor health status, with an increased incidence of obesity and osteoporosis, and impaired fertility and quality of life. The majority of poor health outcomes seem to relate to inadequate treatment rather than the genotype of the patient. Patients receiving high doses of glucocorticoids and the more potent synthetic long-acting glucocorticoids are at an increased risk of obesity, insulin resistance and a reduced quality of life. Further research is required to optimize the treatment of adult patients with CAH and improve health outcomes.
先天性肾上腺皮质增生症（CAH）是一种由类固醇生成缺陷引起的遗传性疾病，导致糖皮质激素缺乏；最常见的潜在突变是编码 21-羟化酶的基因。20 世纪 50 年代引入了挽救生命的糖皮质激素治疗，现在成年患者的数量正在增加；然而，对于儿童期后 CAH 的管理尚未达成共识。成年患者开的糖皮质激素种类繁多，包括氢化可的松、泼尼松、泼尼松龙、地塞米松以及这些药物的组合，以昼夜节律或反向昼夜节律方案服用。尽管进行了这些个性化治疗，但只有大约三分之一的患者实现了 CAH 的生化控制。一些患者健康状况不佳，肥胖症和骨质疏松症的发病率增加，生育能力和生活质量受损。大多数不良健康结果似乎与治疗不足有关，而不是与患者的基因型有关。接受高剂量糖皮质激素和更有效的合成长效糖皮质激素治疗的患者肥胖、胰岛素抵抗和生活质量下降的风险增加。需要进一步研究以优化 CAH 成年患者的治疗并改善健康结果。
