Center for Endocrinology, Diabetes, and Metabolism, Children's Hospital Los Angeles, Los Angeles, CA.
Keck School of Medicine of University of Southern California, Los Angeles, CA.
Pediatr Rev. 2024 Feb 1;45(2):74-84. doi: 10.1542/pir.2022-005617.
We describe congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, which is the most common primary adrenal insufficiency in children and adolescents. In this comprehensive review of CAH, we describe presentations at different life stages depending on disease severity. CAH is characterized by androgen excess secondary to impaired steroidogenesis in the adrenal glands. Diagnosis of CAH is most common during infancy with elevated 17-hydroxyprogesterone levels on the newborn screen in the United States. However, CAH can also present in childhood, with late-onset symptoms such as premature adrenarche, growth acceleration, hirsutism, and irregular menses. The growing child with CAH is treated with hydrocortisone for glucocorticoid replacement, along with increased stress doses for acute illness, trauma, and procedures. Mineralocorticoid and salt replacement may also be necessary. Although 21-hydroxylase deficiency is the most common type of CAH, there are other rare types, such as 11β-hydroxylase and 3β-hydroxysteroid dehydrogenase deficiency. In addition, classic CAH is associated with long-term comorbidities, including cardiometabolic risk factors, impaired cognitive function, adrenal rest tumors, and bone health effects. Overall, early identification and treatment of CAH is important for the pediatric patient.
我们描述了由于 21-羟化酶缺乏引起的先天性肾上腺增生症（CAH），这是儿童和青少年中最常见的原发性肾上腺功能不全。在对 CAH 的全面综述中，我们根据疾病严重程度描述了不同生命阶段的表现。CAH 的特征是由于肾上腺类固醇生成障碍导致雄激素过多。CAH 的诊断在美国最常见于婴儿期，新生儿筛查中 17-羟孕酮水平升高。然而，CAH 也可在儿童期出现，表现为迟发性症状，如性早熟、生长加速、多毛症和月经不规则。患有 CAH 的生长中的儿童需要接受氢化可的松进行糖皮质激素替代治疗，并在急性疾病、创伤和手术时增加应激剂量。盐皮质激素和盐的替代治疗也可能是必要的。虽然 21-羟化酶缺乏是最常见的 CAH 类型，但还有其他罕见类型，如 11β-羟化酶和 3β-羟甾脱氢酶缺乏。此外，经典 CAH 与长期合并症相关，包括心血管代谢风险因素、认知功能受损、肾上腺残余肿瘤和骨骼健康影响。总的来说，早期识别和治疗 CAH 对儿科患者很重要。
