Falhammar Henrik, Filipsson Helena, Holmdahl Gundela, Janson Per-Olof, Nordenskjöld Agneta, Hagenfeldt Kerstin, Thorén Marja
Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
J Clin Endocrinol Metab. 2007 Dec;92(12):4643-9. doi: 10.1210/jc.2007-0744. Epub 2007 Sep 18.
Patients with classical congenital adrenal hyperplasia (CAH) receive lifelong, often supraphysiological, glucocorticoid therapy. Pharmacological doses of glucocorticoids are an established risk factor for osteoporosis.
Our objective was to evaluate bone mineral density (BMD), fracture prevalence, and markers of bone metabolism in adult females with CAH.
This was a cross-sectional observational study.
Tertiary care referral centers were used in this study.
We studied 61 women, aged 18-63 yr, with genetically verified CAH due to 21-hydroxylase deficiency. They were patients with salt wasting (n = 27), simple virilizing (n = 28), and nonclassical 21-hydroxylase deficiency (n = 6). A total of 61 age-matched women were controls.
History of fractures was recorded. Total body, lumbar spine, and femoral neck BMD were measured by dual-energy x-ray absorptiometry. The World Health Organization criteria for osteopenia and osteoporosis were used. Serum marker of bone resorption, beta-C telopeptide was studied.
The mean glucocorticoid dose in hydrocortisone equivalents was 16.9 +/- 0.9 mg/m2. Patients had lower BMD than controls at all measured sites (P < 0.001). In patients younger than 30 yr old, 48% were osteopenic vs. 12% in controls (P < 0.009). In patients 30 yr or older, 73% were osteopenic or osteoporotic vs. 21% in controls (P < 0.001). BMD was similar in the two classical forms and had no obvious relationship to genotypes. beta-C-telopeptide was decreased in older patients. More fractures were reported in patients than controls (P < 0.001). The number of vertebrae and wrist fractures almost reached significance (P = 0.058).
Women with CAH have low BMD and increased fracture risk. BMD should be monitored, adequate prophylaxis and treatment instituted, and glucocorticoid doses optimized from puberty.
经典型先天性肾上腺皮质增生症（CAH）患者需接受终身、通常是超生理剂量的糖皮质激素治疗。药理剂量的糖皮质激素是骨质疏松的既定危险因素。
我们的目的是评估成年女性CAH患者的骨密度（BMD）、骨折患病率和骨代谢标志物。
这是一项横断面观察性研究。
本研究使用三级医疗转诊中心。
我们研究了61名年龄在18 - 63岁之间、因21 - 羟化酶缺乏经基因验证患有CAH的女性。她们是失盐型患者（n = 27）、单纯男性化型患者（n = 28）和非经典型21 - 羟化酶缺乏患者（n = 6）。共有61名年龄匹配的女性作为对照。
记录骨折病史。通过双能X线吸收法测量全身、腰椎和股骨颈的骨密度。采用世界卫生组织骨质疏松症和骨质减少症标准。研究骨吸收血清标志物β - C端肽。
氢化可的松等效剂量的平均糖皮质激素剂量为16.9±0.9 mg/m²。在所有测量部位，患者的骨密度均低于对照组（P < 0.001）。在30岁以下的患者中，48%患有骨质减少症，而对照组为12%（P < 0.009）。在30岁及以上的患者中，73%患有骨质减少症或骨质疏松症，而对照组为21%（P < 0.001）。两种经典类型的骨密度相似且与基因型无明显关系。老年患者β - C端肽降低。患者报告的骨折比对照组多（P < 0.001）。椎骨和腕部骨折的数量几乎达到显著水平（P = 0.058）。
CAH女性骨密度低且骨折风险增加。应监测骨密度，采取充分的预防和治疗措施，并从青春期开始优化糖皮质激素剂量。
