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

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

Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, et al. Congenital adrenal hyperplasia-current insights in pathophysiology, diagnostics, and management. Endocr Rev. 2022 Jan 12;43(1):91-159.Full text  Abstract

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

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. Auer MK, Nordenström A, Lajic S, et al. Congenital adrenal hyperplasia. Lancet. 2023 Jan 21;401(10372):227-44. Abstract

4. Navarro-Zambrana AN, Sheets LR. Ethnic and national differences in congenital adrenal hyperplasia incidence: a systematic review and meta-analysis. Horm Res Paediatr. 2023;96(3):249-58.Full text  Abstract

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. 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

7. 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

8. Pignatelli D, Carvalho BL, Palmeiro A, et al. The complexities in genotyping of congenital adrenal hyperplasia: 21-hydroxylase deficiency. Front Endocrinol (Lausanne). 2019 Jul 4:10:432.Full text  Abstract

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

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 Jan;96(1):E161-72. Abstract

11. Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, et al. Congenital adrenal hyperplasia-current insights in pathophysiology, diagnostics, and management. Endocr Rev. 2022 Jan 12;43(1):91-159.Full text  Abstract

12. 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

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. 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

15. 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

16. Mooij CF, Parajes S, Pijnenburg-Kleizen KJ, et al. Influence of 17-hydroxyprogesterone, progesterone and sex steroids on mineralocorticoid receptor transactivation in congenital adrenal hyperplasia. Horm Res Paediatr. 2015 Apr 15. Abstract

17. 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.

18. 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

19. 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

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

21. 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

22. 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

23. 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

24. 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

25. 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

26. Saroufim R, Nebesio TD, Eugster EA. Characteristics of patients with classic congenital adrenal hyperplasia missed on the newborn screen. Horm Res Paediatr. 2024;97(5):470-6.Full text  Abstract

27. Screening and management of the hyperandrogenic adolescent: ACOG committee opinion, number 789. Obstet Gynecol. 2019 Oct;134(4):e106-14.Full text  Abstract

28. Baumgartner-Parzer S, Witsch-Baumgartner M, Hoeppner W. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency. Eur J Hum Genet. 2020 Oct;28(10):1341-67.Full text  Abstract

29. Auchus RJ, Hamidi O, Pivonello R, et al. Phase 3 trial of crinecerfont in adult congenital adrenal hyperplasia. N Engl J Med. 2024 Aug 8;391(6):504-14.Full text  Abstract

30. Van't Westeinde A, Karlsson L, Messina V, et al. An update on the long-term outcomes of prenatal dexamethasone treatment in congenital adrenal hyperplasia. Endocr Connect. 2023 Mar 15;12(4):e220400.Full text  Abstract

31. Brosnan PG, Brosnan CA, Kemp SF, et al. Effect of newborn screening for congenital adrenal hyperplasia. Arch Pediatr Adolesc Med. 1999 Dec;153(12):1272-8. Abstract

32. Falhammar H, Frisén L, Norrby C, et al. Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 2014 Dec;99(12):E2715-21.Full text  Abstract

33. Babu R, Shah U. Gender identity disorder (GID) in adolescents and adults with differences of sex development (DSD): a systematic review and meta-analysis. J Pediatr Urol. 2021 Feb;17(1):39-47. Abstract

34. 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

35. 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

36. 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

37. 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

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

39. S L, Krishna Prasad H, Ramjee B, et al. Audit of management of children and adolescents with congenital adrenal hyperplasia as per recent Endocrine Society guidelines. Pediatr Endocrinol Diabetes Metab. 2023;29(1):10-5.Full text  Abstract