| [1] |
Speiser PW, Azziz R, Baskin LS, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline[J]. J Clin Endocrinol Metab, 2010, 95(9): 4133-60. doi: 10.1210/jc.2009-2631
|
| [2] |
Antal Z, Zhou P. Congenital adrenal hyperplasia: diagnosis, evaluation, and management [J]. Pediatr Rev, 2009, 30(7): e49-57. doi: 10.1542/pir.30-7-e49
|
| [3] |
Merke DP, Bornstein SR. Congenital adrenal hyperplasia[J]. Lancet, 2005, 365(9477): 2125-36. doi: 10.1016/S0140-6736(05)66736-0
|
| [4] |
Haider S, Islam B, D'atri V, et al. Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia [J]. Proc Natl Acad Sci U S A, 2013, 110(7): 2605-10. doi: 10.1073/pnas.1221133110
|
| [5] |
Witchel SF. Non-classic congenital adrenal hyperplasia[J]. Steroids, 2013, 78(8): 747-50. doi: 10.1016/j.steroids.2013.04.010
|
| [6] |
New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency[J]. J Clin Endocrinol Metab, 2006, 91(11): 4205-14. doi: 10.1210/jc.2006-1645
|
| [7] |
陆召麟, 卢琳. 先天性肾上腺皮质增生症:非经典型21羟化酶缺陷症的研究进展[J]. 内科急危重症杂志, 2010, 16(1): 1-3. http://www.cnki.com.cn/Article/CJFDTOTAL-NKJW201001000.htm
|
| [8] |
Goto S, Ookawara S, Takase K, et al. Non-Classic congenital adrenal hyperplasia due to 21-Hydroxylase deficiency that developed into symptomatic severe hyponatremia[J]. Intern Med, 2015, 54(10): 1273-6. doi: 10.2169/internalmedicine.54.3901
|
| [9] |
Escobar-Morreale HF, Sanchón R, San Millán JL. A prospective study of the prevalence of nonclassical congenital adrenal hyperplasia among women presenting with hyperandrogenic symptoms and signs[J]. J Clin Endocrinol Metab, 2008, 93(2): 527-33. doi: 10.1210/jc.2007-2053
|
| [10] |
Gönç EN, Ozön ZA, Alikaşifoğlu A, et al. Is basal serum 17-OH progesterone a reliable parameter to predict nonclassical congenital adrenal hyperplasia in premature adrenarche? J］. Turk J Pediatr, 2011, 53(3): 274-80.
|
| [11] |
方文强, 宋琦. 肾上腺皮质增生的CT诊断与鉴别诊断[J]. 诊断学理论与实践, 2014, 13(5): 469-71. http://www.cnki.com.cn/Article/CJFDTOTAL-ZDLS201405008.htm
|
| [12] |
Fang B, Cho F, Lam W. Prostate gland development and adrenal tumor in a female with congenital adrenal hyperplasia: a case report and review from radiology perspective[J]. J Radiol Case Rep, 2013, 7(12): 21-34.
|
| [13] |
Armengaud JB, Charkaluk ML, Trivin C, et al. Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche[J]. J Clin Endocrinol Metab, 2009, 94 (8): 2835-40. doi: 10.1210/jc.2009-0314
|
| [14] |
Speiser PW, White PC. Congenital adrenal hyperplasia[J]. N Engl J Med, 2003, 349(8): 776-88. doi: 10.1056/NEJMra021561
|
| [15] |
张波, 陆召麟, 王玥, 等. 非经典型21-羟化酶缺乏症基因型和临床特征[J]. 中华内分泌代谢杂志, 2005, 21(1): 43-6. http://www.cnki.com.cn/Article/CJFDTOTAL-ZHNF20050100D.htm
|
| [16] |
Concolino P, Mello E, Toscano V, et al. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report[J]. Clin Chim Acta, 2009, 402(1/2): 164-70.
|
| [17] |
Lee HH, Lee YJ, Chan P, et al. Use of PCR-based amplification analysis as a substitute for the southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia[J]. Clin Chem, 2004, 50(6): 1074-6. doi: 10.1373/clinchem.2003.028597
|
| [18] |
Tsai LP, Cheng CF, Hsieh JP, et al. Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia[J]. Clin Chim Acta, 2009, 410(1/2): 48-53.
|
| [19] |
Balsamo A, Baldazzi L, Menabò S, et al. Impact of molecular genetics on congenital adrenal hyperplasia management[J]. Sex Dev, 2010, 4(4/5): 233-48.
|
| [20] |
Falhammar H, Nordenström A. Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome[J]. Endocrine, 2015, 50(1): 32-50. doi: 10.1007/s12020-015-0656-0
|
| [21] |
Falhammar H, Frisén L, Norrby C, et al. Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency[J]. J Clin Endocrinol Metab, 2014, 99(12): E2715-21. doi: 10.1210/jc.2014-2957
|
| [22] |
White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency[J]. Endocr Rev, 2000, 21(3): 245-91.
|
| [23] |
Falhammar H, Thorén M. Clinical outcomes in the management of congenital adrenal hyperplasia[J]. Endocrine, 2012, 41(3): 355-73. doi: 10.1007/s12020-011-9591-x
|
| [24] |
Aycan Z, Ocal G, Berberoglu M, et al. Experience with long-term glucocorticoid treatment in congenital adrenal hyperplasia: growth pattern compared with genetic height potential[J]. J Pediatr Endocrinol Metab, 2006, 19(3): 245-51.
|
| [25] |
Rivkees SA. Lost lessons of glucocorticoid potency and the treatment of children with congenital adrenal hyperplasia[J]. J Pediatr Endocrinol Metab, 2008, 21(4): 297-9.
|
| [26] |
Rivkees SA, Stephenson K. Low-dose dexamethasone therapy from infancy of virilizing congenital adrenal hyperplasia[J]. Int J Pediatr Endocrinol, 2009(期缺失): 274682.
|
| [27] |
Van Der Kaay D, Van Den Akker E. Ultralow-dose Dexamethasone to Preserve Endogenous Cortisol Stress Response in Nonclassical Congenital Adrenal Hyperplasia: A New Promising Treatment[J]. Int J Endocrinol Metab, 2014, 12(3): e14657.
|
| [28] |
赵珏, 王利权, 金杭美. 先天性肾上腺皮质增生症的诊治进展[J]. 中国妇幼健康研究, 2008, 19(2): 140-3. http://www.cnki.com.cn/Article/CJFDTOTAL-SANE200802023.htm
|
点击查看大图
下载:
