From the Department of Endocrinology, Akershus University Hospital, Lørenskog, Norway; the Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
the Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden; the Departement of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Endocr Pract. 2020 Nov;26(11):1351-1365. doi: 10.4158/EP-2020-0058.
The prevalence of adrenal tumors in congenital adrenal hyperplasia (CAH) is uncertain. Our objective was to estimate the prevalence and characteristics of adrenal tumors and myelolipoma in CAH, and investigate clinical features of this population.
We carried out systematic searches in Medline Ovid and Embase for articles published until January, 2020. Studies with confirmed CAH, biochemically and/or genetically, were included. The two authors independently extracted data from each study.
Six cohort studies were included in the prevalence calculation. In addition, 32 case reports on adrenal myelolipomas and CAH were included. The prevalence of adrenal tumors in CAH was 29.3%. When only studies with genetically verified cytochrome P450, Family 21, subfamily A, polypeptide 2 gene (CYP21A2) mutations were included the prevalence was 23.6%. The prevalence of myelolipoma in CAH was 7.4% (verified CYP21A2 mutations 8.6%). The proportion of myelolipoma in the adrenal tumors was 25.4% (genetically verified 36.6%). The median (range) age at tumor diagnosis was 36.0 (12 to 60) years and there were more tumors in males than in females (37.9% versus 22.1%; P<.05). In patients with myelolipomas, 93.5% had an undiagnosed or poorly managed CAH.
Patients with CAH had a high prevalence of adrenal tumors, particularly myelolipomas. Those with myelolipomas had a high frequency of late-diagnosed or poorly controlled CAH. Adrenal imaging may be considered in patients with CAH, especially if abdominal pain is present.
先天性肾上腺皮质增生症（CAH）中肾上腺肿瘤的患病率尚不确定。我们的目的是评估 CAH 中肾上腺肿瘤和骨髓脂肪瘤的患病率和特征，并研究该人群的临床特征。
我们在 Medline Ovid 和 Embase 中进行了系统检索，以获取截至 2020 年 1 月发表的文章。纳入了经生物化学和/或遗传学证实的 CAH 的研究。两位作者独立地从每项研究中提取数据。
有 6 项队列研究纳入患病率计算。此外，还纳入了 32 例关于肾上腺骨髓脂肪瘤和 CAH 的病例报告。CAH 中肾上腺肿瘤的患病率为 29.3%。当仅纳入经基因证实的细胞色素 P450 家族 21 亚家族 A 多肽 2 基因（CYP21A2）突变的研究时，患病率为 23.6%。CAH 中骨髓脂肪瘤的患病率为 7.4%（经基因证实的 CYP21A2 突变为 8.6%）。骨髓脂肪瘤在肾上腺肿瘤中的比例为 25.4%（经基因证实的为 36.6%）。肿瘤诊断时的中位（范围）年龄为 36.0（12 至 60）岁，男性肿瘤多于女性（37.9%比 22.1%；P<.05）。在患有骨髓脂肪瘤的患者中，93.5%的患者存在未确诊或未得到良好管理的 CAH。
CAH 患者的肾上腺肿瘤患病率较高，尤其是骨髓脂肪瘤。患有骨髓脂肪瘤的患者中，CAH 晚期诊断或控制不佳的频率较高。如果存在腹痛，可能会考虑对 CAH 患者进行肾上腺成像。
