成人先天性肾上腺皮质增生症。
Congenital adrenal hyperplasia in adults.
机构信息
Division of Endocrinology and Metabolism, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas 75390-8857, USA.
出版信息
Curr Opin Endocrinol Diabetes Obes. 2010 Jun;17(3):210-6. doi: 10.1097/MED.0b013e32833961d7.
PURPOSE OF REVIEW
Patients born with congenital adrenal hyperplasia (CAH), the majority of which is 21-hydroxylase deficiency (21OHD), have been studied by pediatric endocrinologists for decades and treated successfully since the pioneering work of Lawson Wilkins. As is the case for other previously fatal diseases of childhood, such as type 1 diabetes mellitus and cystic fibrosis, these children are now surviving into adulthood. This success has created a new clinical entity, for which the natural history and optimal management strategies are not known.
RECENT FINDINGS
Longitudinal and cross-sectional studies of adults with CAH have begun to emerge from a few centers. The major challenges faced by these patients include infertility, neoplasia, and consequences of chronic glucocorticoid therapy.
SUMMARY
The treatment goals of the adult with CAH differ from those for children, and data from specialized centers have identified some of the major issues guiding management. More data and better therapies for these patients are sorely needed.
目的综述
患有先天性肾上腺皮质增生症（CAH）的患者，其中大多数为 21-羟化酶缺乏症（21OHD），几十年来一直受到儿科内分泌学家的研究，并在 Lawson Wilkins 的开创性工作之后成功得到治疗。与其他以前致命的儿童疾病（如 1 型糖尿病和囊性纤维化）一样，这些儿童现在已经存活到成年。这一成功带来了一个新的临床实体，其自然病史和最佳管理策略尚不清楚。
最新发现
来自几个中心的关于 CAH 成年人的纵向和横断面研究已经开始出现。这些患者面临的主要挑战包括不孕、肿瘤形成和长期糖皮质激素治疗的后果。
总结
成人 CAH 的治疗目标与儿童不同，来自专门中心的数据确定了一些指导管理的主要问题。这些患者非常需要更多的数据和更好的治疗方法。
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