Congenital adrenal hyperplasia

White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000 Jun;21(3):245-91.Full text  Abstract

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. Abstract

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. Abstract

1. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000 Jun;21(3):245-91.Full text  Abstract

2. Merke DP, Auchus RJ. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med. 2020 Sep 24;383(13):1248-61. Abstract

3. 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. Abstract

4. Pang S, Clark A, Neto EC, et al. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. 1993 Apr-Jun; 105-39.

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.Full text  Abstract

6. 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 May;80(5):1635-40. Abstract

7. Khattab A, Haider S, Kumar A, et. al. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Proc Natl Acad Sci U S A 2017. 114(10):E1933-40.Full text  Abstract

8. 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 Feb 12;110(7):2611-6.Full text  Abstract

9. 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 Jan;96(1):E161-72. Abstract

10. Ma D, Yuan Y, Luo C, et al. Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. Sci Rep. 2017 Aug 7;7(1):7427.Full text  Abstract

11. McCann-Crosby B, Placencia FX, Adeyemi-Fowode O, et al. Challenges in prenatal treatment with dexamethasone. Pediatr Endocrinol Rev. 2018 Sep;16(1):186-93.Full text  Abstract

12. Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4043-88.Full text  Abstract

13. 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.

14. New MI, Lorenzen F, Lerner AJ, et al. Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab. 1983 Aug;57(2):320-6. Abstract

15. 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.

16. Wasniewska MG, Morabito LA, Baronio F, et al; Adrenal Diseases Working Group of the Italian Society for Pediatric Endocrinology and Diabetology. Growth trajectory and adult height in children with nonclassical congenital adrenal hyperplasia. Horm Res Paediatr. 2020;93(3):173-81.Full text  Abstract

17. World Professional Association for Transgender Health. Standards of care for the health of transsexual, transgender, and gender nonconforming people. Version 7. 2011 [internet publication].Full text

18. 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. Abstract

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

20. 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 Jun;168(6):567-74. Abstract

21. 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 Jan;130(1):128-33. Abstract

22. 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. Abstract

23. 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 Jan;97(1):100-2. Abstract

24. 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(1):65-8. Abstract

25. Woodhouse CR, Lipshultz L, Hwang K, et al. Adult care of children from pediatric urology: part 2. J Urol. 2012 Sep;188(3):717-23. Abstract

26. 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. Abstract

27. 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.Full text  Abstract

28. 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. Abstract

29. 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. Abstract

30. 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.Full text  Abstract

31. 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. Abstract

32. Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2018 Nov 1;103(11):4043-4088.Full text  Abstract

33. 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. Abstract

34. 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. Abstract

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

36. 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. Abstract

37. 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. Abstract

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

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

40. 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.Full text  Abstract

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