Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden.
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
J Clin Endocrinol Metab. 2022 Jan 18;107(2):e475-e486. doi: 10.1210/clinem/dgab712.
Low bone mineral density has been reported in individuals with congenital adrenal hyperplasia (CAH), but the prevalence of fractures is unclear.
To study the prevalence of fractures in CAH.
DESIGN, SETTING, AND PARTICIPANTS: Patients with CAH (n = 714, all 21-hydroxylase deficiency) were compared with controls matched for sex and year and place of birth (n = 71 400). Data were derived by linking National Population-Based Registers.
Number and type of fractures.
Mean age was 29.8 ± 18.4 years. Individuals with CAH had more fractures compared to controls [23.5% vs 16.1%, odds ratio (OR) 1.61, 95% CI 1.35-1.91], and this was found in both sexes (females: 19.6% vs 13.3%, OR 1.57, 95% CI 1.23-2.02; males: 28.7% vs 19.6%, OR 1.65, 95% CI 1.29-2.12). Fractures were significantly increased in patients born before the introduction of neonatal screening but not in those born afterwards. Any major fracture associated with osteoporosis (spine, forearm, hip, or shoulder) was increased in all individuals with CAH (9.8% vs 7.5%, OR 1.34, 95% CI 1.05-1.72). The highest prevalence of fractures was seen in SV phenotype and I172N genotype while nonclassic phenotype and I2 splice genotype did not show increased prevalence. A transport accident as a car occupant and fall on the same level were more common in patients with CAH, both sexes, than in controls.
Patients with CAH had an increased prevalence of both any fracture and fractures associated with osteoporosis (both sexes) but not for patients neonatally screened. We conclude that fracture risk assessment and glucocorticoid optimization should be performed regularly.
已有研究报道，先天性肾上腺皮质增生症（CAH）患者的骨矿物质密度较低，但骨折的患病率尚不清楚。
研究 CAH 患者的骨折患病率。
设计、地点和参与者：将 714 例 CAH 患者（均为 21-羟化酶缺陷）与按性别、出生年份和地点匹配的 71400 例对照进行比较。数据来自国家人群登记处的链接。
骨折的数量和类型。
平均年龄为 29.8±18.4 岁。与对照组相比，CAH 患者的骨折发生率更高[23.5%比 16.1%，比值比（OR）1.61，95%可信区间（CI）为 1.35-1.91]，且这种差异在男女中均存在（女性：19.6%比 13.3%，OR 1.57，95%CI 为 1.23-2.02；男性：28.7%比 19.6%，OR 1.65，95%CI 为 1.29-2.12）。在新生儿筛查前出生的患者中，骨折发生率显著增加，但在新生儿筛查后出生的患者中则没有。所有 CAH 患者的任何主要骨质疏松性骨折（脊柱、前臂、髋部或肩部）均增加（9.8%比 7.5%，OR 1.34，95%CI 为 1.05-1.72）。SV 表型和 I172N 基因型的骨折发生率最高，而非经典表型和 I2 剪接基因型则没有增加的趋势。CAH 患者（无论男女）中，作为汽车乘客的交通事故和同一水平的跌倒更为常见，而对照组则较少见。
CAH 患者的骨折总患病率和骨质疏松性骨折患病率均增加（两性均如此），但新生儿筛查患者则没有。我们的结论是，应定期进行骨折风险评估和糖皮质激素优化。
