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11β-羟化酶缺陷所致先天性肾上腺皮质增生症相当少见,在肾上腺生殖器综合征中不到10%。本文报告1例,且合并高磷性佝偻病,就目前所知尚无类似报道。病例阿尔及利亚籍7岁男孩,以性早熟和佝偻病入院。身长106cm,体重21kg,阴茎长7 cm,睾丸半径3 cm,生殖器和阴毛发育属Tanner第3期,上唇少许胡须,血压110/80。腕膝关节与肋骨骺部均有重度佝偻病改变,弓形腿,髋、膝、腕关节活动受限。长骨X线片有典型佝偻病变化,骨龄13岁。患儿无营养不良,钙和磷摄入正常,未曾接受任何治疗。确定肾上腺皮质11β-羟化酶缺陷诊断的生化检查为血11-脱氧皮质醇增高,尿17-羟和17-酮类固醇增加,血
11β-hydroxylase deficiency congenital adrenal hyperplasia is quite rare, less than 10% of adrenal genital syndrome. This article reports 1 case, and the merger of high-phosphorus rickets, so far there is no similar report. Case Algerian 7-year-old boy admitted to hospital with precocious puberty and rickets. Length 106cm, weight 21kg, penis length 7cm, testicular radius 3cm, genital and pubic hair is a Tanner 3, upper lip a little beard, blood pressure 110/80. Wrist and rib epiphysis have severe rickets changes, arched legs, hips, knees, wrist activity limited. Long bone X-ray has a typical change in rickets, bone age 13 years. Children without malnutrition, calcium and phosphorus intact, did not receive any treatment. Biochemical tests to determine the diagnosis of adrenal 11 [beta] -hydroxylase deficiency are increased blood 11-deoxycortisol, increased urinary 17-hydroxy and 17-keto steroids, blood