先天性肾上腺增生症

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

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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;81:866-874.

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Pang S. Congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 1997;26:853-891.

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Speiser P, Azziz R, Baskin L, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010;95:4133-4160.

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White PC, New MI, Dupont B. Congenital adrenal hyperplasia. N Engl J Med. 1987;316:1519-1524.

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New MI, Carlson A, Obeid J, et al. Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J Clin Endocrinol Metab. 2001;86:5651-5657.

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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.

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

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2.  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;81:866-874.

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3.  Speiser PW, Dupont B, Rubinstein P, et al. High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet. 1985;37:650-667.

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4.  Sherman SL, Aston CE, Morton NE, et al. A segregation and linkage study of classical and nonclassical 21-hydroxylase deficiency. Am J Hum Genet. 1988:42:830-838.

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5.  Speiser PW, New MI. Hormonal hypertension in childhood. In: Lavin N, ed. Manual of endocrinology and metabolism. Boston, MA: Little, Brown and Co; 1994:161-173.

6.  Pang S. Congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 1997;26:853-891.

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7.  Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat. 2003;21:577-581.

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8.  Wilson RC, Wei JQ, Cheng KC, et al. Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab. 1995;80:1635-1640.

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9.  New MI, Abraham M, Gonzalez B, et al. Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A. 2013;110:2611-2616.

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10.  Finkielstain GP, Chen W, Mehta SP, et al. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2011;96:E161-E172.

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11.  New MI, Dupont B, Grumbach K, et.al. Congenital adrenal. hyperplasia and related conditions. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, et al., eds. The metabolic basis of inherited disease. 5th ed. New York, NY: McGraw-Hill; 1983:973-1000.

12.  New MI, Lorenzen F, Lerner AJ, et al. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab. 1983;57:320‑326.

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13.  Gidlöf S, Wedell A, Guthenberg C, et al. Nationwide neonatal screening for congenital adrenal hyperplasia in Sweden: a 26-year longitudinal prospective population-based study. JAMA Pediatr. 2014;168:567-574.

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14.  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.

15.  Speiser P, Azziz R, Baskin L, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010;95:4133-4160.

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16.  Allen DB, Hoffman GL, Fitzpatrick P, et al. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. J Pediatr. 1997;130:128-133.

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17.  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;101:583-590.

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18.  Al Saedi S, Dean H, Dent W, et al. Screening for congenital adrenal hyperplasia: the Delfia Screening Test overestimates serum 17-hydroxyprogesterone in preterm infants. Pediatrics. 1996;97:100-102.

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19.  Rohrer TR, Gassmann KF, Pavel ME, et al. Pitfall of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Biol Neonate. 2003;83:65-68.

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20.  Prader A. Genital findings in the female pseudo-hermaphroditism of the congenital adrenogenital syndrome; morphology, frequency, development and heredity of the different genital forms [in German]. Helv Paediat Acta. 1954;9:231-248.

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21.  White PC, New MI, Dupont B. Congenital adrenal hyperplasia. N Engl J Med. 1987;316:1519-1524.

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22.  Ferriman D, Gallwey JD. Clinical assessment of body hair growth in women. J Clin Endocrinol Metab. 1961;21:1440-1447.

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23.  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;90:3318-3325.

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24.  Woodhouse CR, Lipshultz L, Hwang K, et al. Adult care of children from pediatric urology: part 2. J Urol. 2012;188:717-723.

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25.  Forest MG, Dorr HG. Prenatal therapy in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Retrospective follow-up study of 253 treated pregnancies in 215 families. Conference Proceedings. Endocrinologist. 2003;13:252-259.

26.  Mercado AB, Wilson RC, Cheng KC, et al. Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab. 1995;80:2014-2020.

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27.  New M, Carlson A, Obeid J, et al. Update: Prenatal diagnosis for congenital adrenal hyperplasia in 595 pregnancies. Endocrinologist. 2003;13:233-239.

28.  New MI, Carlson A, Obeid J, et al. Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J Clin Endocrinol Metab. 2001;86:5651-5657.

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29.  Kuhnle U, Bullinger M. Outcome of congenital adrenal hyperplasia. Pediatr Surg Int. 1997;12:511-515.

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30.  Crouch NS, Liao LM, Woodhouse CR, et al. Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia. J Urol. 2008;179:634-638.

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31.  Section on Endocrinology and Committee on Genetics, American Academy of Pediatrics. Technical report: congenital adrenal hyperplasia. Pediatrics. 2000;106:1511-1518.

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32.  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;96:1710-1717.

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33.  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.

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34.  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.

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35.  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.

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36.  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.

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

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

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39.  Greulich W, Pyle S. Radiographic atlas of skelatal development of the hand and wrist. 2nd ed. Stanford, CA: Stanford University Press; 1999.