先天性肾上腺增生

White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000;21:245-291.全文  摘要

Pang SY, Wallace MA, Hofman L, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics. 1988;81:866-74. 摘要

Ogilvie CM, Crouch NS, Rumsby G, et al. Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues. Clin Endocrinol. 2006;64:2-11. 摘要

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5. Pearce M, DeMartino L, McMahon R, et al. Newborn screening for congenital adrenal hyperplasia in New York State. Mol Genet Metab Rep. 2016 Mar 12;7:1-7.全文  摘要

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18. New MI, Gertner JM, Speiser PW, et al. Growth and final height in congenital adrenal hyperplasia (classical 21-hydroxylase deficiency) and in nonclassical 21-hydroxylase deficiency. In: Cavallo L, Job JC, New MI, eds. Growth disorders: the state of the art, Vol 81. New York, NY: Raven Press; 1991:105-110.

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25. Therrell BL Jr, Berenbaum SA, Manter-Kapanke V, et al. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics. 1998 Apr;101(4 Pt 1):583-90. 摘要

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29. Lin-Su K, Vogiatzi MG, Marshall I, et al. Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2005 Jun;90(6):3318-25. 摘要

30. Quintos JB, Vogiatzi MG, Harbison MD, et al. Growth hormone therapy alone or in combination with gonadotropin-releasing hormone analog therapy to improve the height deficit in children with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2001 Apr;86(4):1511-7.全文  摘要

31. Lin-Su K, Harbison MD, Lekarev O, et al. Final adult height in children with congenital adrenal hyperplasia treated with growth hormone. J Clin Endocrinol Metab. 2011 Jun;96(6):1710-7. 摘要

32. Van Wyk JJ, Gunther DF, Ritzen EM, et al. The use of adrenalectomy as a treatment for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1996;81:3180-3190. 摘要

33. MacKay D, Nordenström A, Falhammar H. Bilateral Adrenalectomy in congenital adrenal hyperplasia: a systematic review and meta-analysis. J Clin Endocrinol Metab. 2018 May 1;103(5):1767-78.全文  摘要

34. Krysiak R, Okopien B. The effect of metformin on androgen production in diabetic women with non-classic congenital adrenal hyperplasia. Exp Clin Endocrinol Diabetes. 2014 Nov;122(10):568-71. 摘要

35. Ogilvie CM, Crouch NS, Rumsby G, et al. Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues. Clin Endocrinol. 2006;64:2-11. 摘要

36. Long DN, Wisniewski AB, Migeon CJ. Gender role across development in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Pediatr Endocrinol Metab. 2004;17:1367-1373. 摘要

37. Kuhnle U, Bullinger M. Outcome of congenital adrenal hyperplasia. Pediatr Surg Int. 1997 Sep;12(7):511-5. 摘要

38. Crouch NS, Liao LM, Woodhouse CR, et al. Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia. J Urol. 2008 Feb;179(2):634-8. 摘要

39. Hines M, Brook C, Conway G. Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH). J Sex Res. 2004;41:75-81. 摘要

40. Meyer-Bahlburg HF. Brain development and cognitive, psychosocial, and psychiatric functioning in classical 21-hydroxylase deficiency. Endocr Dev. 2011;20:88-95. 摘要

41. Berenbaum S. Cognitive function in congenital adrenal hyperplasia. Endocrinol Metab Clinic North Am. 2001;30:173-192. 摘要

42. Wicker LS, Miller BJ, Chai A, et al. Expression of genetically determined diabetes and insulitis in the nonobese diabetic (NOD) mouse at the level of bone marrow-derived cells. Transfer of diabetes and insulitis to nondiabetic (NOD X B10) F1 mice with bone marrow cells from NOD mice. J Exp Med. 1988 Jun 1;167(6):1801-10.全文  摘要

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