Hiperplasia adrenal congênita

White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000 Jun;21:245-91.Texto completo  Resumo

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

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.Texto completo  Resumo

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.Texto completo  Resumo

1. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev. 2000 Jun;21:245-91.Texto completo  Resumo

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

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

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.Texto completo  Resumo

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.Texto completo  Resumo

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 Mar 7;114(10):E1933-40.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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.Texto completo  Resumo

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. Resumo

16. 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. Resumo

17. 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. Resumo

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.

19. 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.Texto completo  Resumo

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 Jul;9(3):231-48. Resumo

21. Ferriman D, Gallwey JD. Clinical assessment of body hair growth in women. J Clin Endocrinol Metab. 1961 Nov;21:1440-7. Resumo

22. UK National Screening Committee. Congenital adrenal hyperplasia. Dec 2016 [internet publication].Texto completo

23. 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. Resumo

24. 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. Resumo

25. 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. Resumo

26. 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. Resumo

27. 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.Texto completo  Resumo

28. 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.Texto completo  Resumo

29. 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.Texto completo  Resumo

30. 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. Resumo

31. 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.Texto completo  Resumo

32. 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. Resumo

33. 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. Resumo

34. 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.Texto completo  Resumo

35. 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.Texto completo  Resumo

36. 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. Resumo

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

38. 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.Texto completo  Resumo