Trastornos hormonales, genitales atípicos | 17 FEB 21

Hiperplasia suprarrenal congénita por deficiencia de 21-hidroxilasa

Características genéticas y fisiopatológicas de la hiperplasia adrenal congénita y actualización sobre su diagnóstico, manejo y tratamiento
Autor/a: Deborah P. Merke, Richard J. Auchus N Engl J Med 2020;383:1248-61.
INDICE:  1. Texto principal | 2. Referencias bibliográficas
Referencias bibliográficas

1. Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med 2003; 349: 776-88.

2. Lee PA, Houk CP, Ahmed SF, Hughes IA. Consensus statement on management of intersex disorders. Pediatrics 2006; 118(2): e488-e500.

3. Bornstein SR, Allolio B, Arlt W, et al. Diagnosis and treatment of primary adrenal insufficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2016; 101: 364-89.

4. 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: 2611-6.

5. White PC. Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol 2009; 5: 490-8.

6. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet 2017; 390: 2194-210.

7. 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; 103: 4043-88.

8. 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: 583-90.

9. Decourt J, Jayle MF, Baulieu E. Clinically delayed virilism with excretion of pregnanetriol and insufficiency of cortisol production. Ann Endocrinol (Paris) 1957; 18: 416-22. (In French.)

10. Levine LS, Dupont B, Lorenzen F, et al. Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 1980; 51: 1316-24.

11. Hannah-Shmouni F, Morissette R, Sinaii N, et al. Revisiting the prevalence of non classic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians. Genet Med 2017; 19: 1276-9.

12. Miller WL, Merke DP. Tenascin-X, congenital adrenal hyperplasia, and the CAH-X syndrome. Horm Res Paediatr 2018; 89: 352-61.

13. Riedl S, Röhl F-W, Bonfig W, et al. Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients. Endocr Connect 2019; 8: 86-94.

14. Concolino P, Costella A. Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: a comprehensive focus on 233 pathogenic variants of CYP21A2 gene. Mol Diagn Ther 2018; 22: 261-80.

15. 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.

16. Lee H-H, Chang J-G, Tsai C-H, Tsai F-J, Chao H-T, Chung B. Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency. Clin Chem 2000; 46: 606-11.

17. Chen W, Xu Z, Sullivan A, et al. Junction site analysis of chimeric CYP21A1P/ CYP21A2 genes in 21-hydroxylase deficiency. Clin Chem 2012; 58: 421-30.

18. Kolli V, Kim H, Rao H, et al. Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X. BMC Res Notes 2019; 12: 711.

19. Burch GH, Gong Y, Liu W, et al. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 1997; 17: 104-8.

20. Merke DP, Chen W, Morissette R, et al. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2013; 98: E379-E387.

21. Ren Mao J, Taylor G, Dean WB, et al. Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition. Nat Genet 2002; 30: 421-5.

22. Turcu AF, Nanba AT, Chomic R, et al. Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency. Eur J Endocrinol 2016; 174: 601-9.

23. Miller WL, Auchus RJ. The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev 2011; 32: 81-151.

24. Janzen N, Peter M, Sander S, et al. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metab 2007; 92: 2581-9.

25. Rege J, Turcu AF, Kasa-Vubu JZ, et al. 11-Ketotestosterone is the dominant circulating bioactive androgen during normal and premature adrenarche. J Clin Endocrinol Metab 2018; 103: 4589-98.

26. Nimkarn S, Lin-Su K, Berglind N, Wilson RC, New MI. Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab 2007; 92: 137-42.

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

28. Van der Kamp HJ, Noordam K, Elvers B, Van Baarle M, Otten BJ, Verkerk PH. Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics 2001; 108: 1320-4.

29. Pode-Shakked N, Blau A, Pode-Shakked B, et al. Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia. J Clin Endocrinol Metab 2019; 104: 3172-80.

30. Seo JY, Park H-D, Kim JW, et al. Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation. J Perinat Med 2014; 42: 121-7.

31. Prado MJ, de Castro SM, Kopacek C, et al. Development of CYP21A2 genotyping assay for the diagnosis of congenital adrenal hyperplasia. Mol Diagn Ther 2017; 21: 663-75.

32. Merke DP, Chrousos GP, Eisenhofer G, et al. Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency. N Engl J Med 2000; 343: 1362-8.

33. Finkielstain GP, Kim MS, Sinaii N, et al. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2012; 97: 4429-38.

34. Gidlöf S, Falhammar H, Thilén A, et al. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. Lancet Diabetes Endocrinol 2013; 1: 35-42.

35. 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; 99: E2715-E2721.

36. Jenkins-Jones S, Parviainen L, Porter J, et al. Poor compliance and increased mortality, depression and healthcare costs in patients with congenital adrenal hyperplasia. Eur J Endocrinol 2018; 178: 309-20.

37. Reisch N, Willige M, Kohn D, et al. Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency. Eur J Endocrinol 2012; 167: 35-42.

38. El-Maouche D, Hargreaves CJ, Sinaii N, Mallappa A, Veeraraghavan P, Merke DP. Longitudinal assessment of illnesses, stress dosing, and illness sequelae in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2018; 103: 2336-45.

39. Aso K, Izawa M, Higuchi A, Kotoh S, Hasegawa Y. Stress doses of glucocorticoids cannot prevent progression of all adrenal crises. Clin Pediatr Endocrinol 2009; 18: 23-7.

40. Odenwald B, Nennstiel-Ratzel U, Dörr HG, Schmidt H, Wildner M, Bonfig W. Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life. Eur J Endocrinol 2016; 174: 177-86.

41. Bidet M, Bellanné-Chantelot C, Galand- Portier MB, et al. Clinical and molecular characterization of a cohort of 161 unrelated women with non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members. J Clin Endocrinol Metab 2009; 94: 1570-8.

 

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