Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.
J Clin Endocrinol Metab. 2012 Dec;97(12):4429-38. doi: 10.1210/jc.2012-2102. Epub 2012 Sep 18.
Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens.
The aim of the study was to describe clinical characteristics of a large cohort of pediatric and adult CAH patients.
We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health.
MAIN OUTCOME MEASURE(S): Outcome variables of interest were height sd score, obesity, hypertensive blood pressure (BP), insulin resistance, metabolic syndrome, bone mineral density, hirsutism (females), and testicular adrenal rest (TART).
The majority had elevated or suppressed androgens, with varied treatment regimens. Mean adult height SD score was -1.0 ± 1.1 for classic vs. -0.4 ± 0.9 for NC patients (P = 0.015). Obesity was present in approximately one third of patients, across phenotypes. Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001). Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome. The majority (61%) had low vitamin D; 37% of adults had low bone mineral density. Hirsutism was common (32% classic; 59% NC women). TART was found in classic males (33% boys; 44% men).
Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments. Routine monitoring of classic children should include measuring BP and plasma renin activity. Osteoporosis prophylaxis and TART screening should begin during childhood. A longitudinal study is under way.
患有先天性肾上腺皮质增生症（CAH）的患者常因长期接受糖皮质激素治疗和治疗方案不理想而出现慢性并发症。
本研究旨在描述大型儿科和成年 CAH 患者队列的临床特征。
我们对在国立卫生研究院进行的自然史研究中纳入的 244 例 CAH 患者[183 例经典型，61 例非经典型（NC）]进行了横断面研究。
感兴趣的结局变量是身高标准差评分、肥胖、高血压血压（BP）、胰岛素抵抗、代谢综合征、骨密度、多毛症（女性）和睾丸肾上腺残余（TART）。
大多数患者的雄激素水平升高或降低，且治疗方案各异。经典型患者的成年平均身高标准差评分为-1.0±1.1，而非经典型患者为-0.4±0.9（P=0.015）。肥胖在各表型患者中均占约三分之一。经典型患者的高血压更为常见（P≤0.01）；儿科高血压与血浆肾素活性受抑制相关（P=0.001）。经典型儿童和成年患者中胰岛素抵抗均很常见（27%的儿童，38%的成年经典型，20%的非经典型）；18%的成年患者患有代谢综合征。大多数患者（61%）维生素 D 水平较低；37%的成年患者骨密度较低。多毛症常见（经典型 32%；NC 女性 59%）。经典型男性发现 TART（男孩 33%；男性 44%）。
CAH 患者的激素控制不良和不良结局很常见，需要新的治疗方法。经典型儿童的常规监测应包括测量血压和血浆肾素活性。应在儿童期开始骨质疏松症预防和 TART 筛查。一项纵向研究正在进行中。
