Antenatal diagnosis and treatment of congenital adrenal hyperplasia

Current Urology Reports

Volumn 2, Issue 1, 2001, Pages 11-18

  New, Maria I ^a  

^a WEILL CORNELL MEDICAL COLLEGE   (United States)

Author keywords

Congenital Adrenal Hyperplasia; CYP11B1 Gene; Human Lymphocyte Antigen; Prenatal Diagnosis; Prenatal Treatment

Indexed keywords

DEXAMETHASONE; GLUCOCORTICOID;

CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GENETICS; HUMAN; MALE; PREGNANCY; PRENATAL DIAGNOSIS; REVIEW;

ADRENAL HYPERPLASIA, CONGENITAL; DEXAMETHASONE; FEMALE; GLUCOCORTICOIDS; HUMANS; MALE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0035248368     PISSN: 15272737     EISSN: 15346285     Source Type: Journal    
DOI: 10.1007/s11934-001-0020-1     Document Type: Article

References (37)

1. New MI, White PC: Genetic disorders of steroid metabolism. In Genetic and Molecular Biological Aspects of Endocrine Disease. Edited by Thakker RV. London: Bailliere Tindall; 1995:525–554. Comprehensive review of congenital adrenal hyperplasia, including both 21-hydroxylase deficiency and 11β-hydroxylase deficiency. Chapter includes clinical, biochemical, and genetic characterizations.
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.
3. Pang S, Clark A: Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Trends Endocrinol Metab 1990, 1:300–307. DOI: 10.1016/1043-2760(90)90068-E
4. Pang S, Clark A: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening 1993, 2:105–139. DOI: 10.1016/0925-6164(93)90024-D
5. Speiser PW, Dupont B, Rubinstein P, et al.: High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 1985, 37:650–667.
6. Sherman SL, Aston CE, Morton NE, et al.: A segration and linkage study of classical and nonclassical 21-hydroxylase deficiency. Am J Hum Genet 1988, 42:830–838.
7. Zerah M, Ueshiba H, Wood E, et al.: Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study. J Clin Endocrinol Metab 1990, 70:1662–1667. DOI: 10.1210/jcem-70-6-1662
8. Dupont B, Oberfield SE, Smithwick EM, et al.: Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet 1977, 2:1309–1312. DOI: 10.1016/S0140-6736(77)90362-2
9. Nebert DW, Nelson DR, Coon MJ: The P450 superfamily: update on new sequences, gene mapping, and recommended nomenclature. DNA Cell Biol 1991, 10:1–14. DOI: 10.1089/dna.1991.10.1
10. Carroll MC, Campbell RD, Porter RR: The mapping of 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man. Proc Natl Acad Sci U S A 1985, 82:521–525. DOI: 10.1073/pnas.82.2.521
11. White PC, Grossberger D, Onufer BJ, et al.: Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proc Natl Acad Sci U S A 1985, 82:1089–1093. DOI: 10.1073/pnas.82.4.1089
12. Belt KT, Carroll MC, Porter RR: The structural basis of the multiple forms of human complement component C4. Cell 1984, 36:907–914. DOI: 10.1016/0092-8674(84)90040-0
13. Higashi Y, Yoshioka H, Yamane M, et al.: Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci U S A 1986, 83:2841–2845. DOI: 10.1073/pnas.83.9.2841
14. White PC, New MI, Dupont B: Structure of the human steroid 21-hydroxylase genes. Proc Natl Acad Sci U S A 1986, 83:5111–5115. DOI: 10.1073/pnas.83.14.5111
15. Krawczak M, Cooper DN: The human gene mutation database. Trends Genet 1997, 13:121–122. DOI: 10.1016/S0168-9525(97)01068-8
16. Werkmeister JW, New MI, Dupont B, White PC: Frequent deletion and duplication of the steroid 21-hydroxylase genes. Am J Hum Genet 1986, 39:461–469.
17. Amor M, Parker KL, Globerman H, et al.: Mutation in the CYP21B gene (Ile-172---Asn) causes steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U S A 1988, 85:1600–1604. DOI: 10.1073/pnas.85.5.1600
18. Globerman H, Amor M, Parker KL, et al.: Nonsense mutation causing steroid 21-hydroxylase deficiency. J Clin Invest 1988, 82:139–144. DOI: 10.1172/JCI113562
19. White PC, Vitek A, Dupont B, New MI: Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U S A 1988, 85:4436–4440. DOI: 10.1073/pnas.85.12.4436
20. Speiser PW, New MI, White PC: Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1. N Engl J Med 1988, 319:19–23. DOI: 10.1056/NEJM198807073190104
21. Tusie-Luna M, Speiser PW, Dumic M, et al.: A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Mol Endocrinol 1991, 5:685–692.
22. Wilson RC, Mercado AB, Cheng KC, New MI: Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab 1995, 80:2322–2329. DOI: 10.1210/jc.80.8.2322
23. Merke DP, Tajima T, Chhabra A, et al.: Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab 1998, 83:270–273. DOI: 10.1210/jc.83.1.270
24. Mulatero P, Curnow KM, Aupetit-Faisant B, et al.: Recombinant CYP11B genes encode enzymes that can catalyze conversion of 11-deoxycortisol to cortisol, 18-hydroxycortisol, and 18-oxocortisol. J Clin Endocrinol Metab 1998, 83:3996–4001. DOI: 10.1210/jc.83.11.3996
25. White PC, Dupont J, New MI, et al.: A mutation in CYP11B1 (Arg-448---His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. J Clin Invest 1991, 87:1664–1667.
26. Rosler A, Leiberman E: Enzymatic defects of steroidogenesis: 11beta-hydroxylase deficiency congenital adrenal hyperplasia In Adrenal Diseases in Childhood: Pathophysiologic and Clinical Aspects. Edited by New MI, Levine LS. Basel: S. Karger; 1984:47–71.
27. Rosler A, Leiberman E, Cohen T: High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco. Am J Med Genet 1992, 42:827–834. DOI: 10.1002/ajmg.1320420617
28. Mercado AB, Wilson RC, Cheng KC, et al.: Extensive personal experience: prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 1995, 80:2014–2020. The prenatal diagnosis and treatment experience in 21-hydroxylase CAH at The New York Hospital-Cornell Medical Center from 1986 to 1994. Thirty-seven babies were affected with classical 21-OHD; of those, 21 were females, 13 of whom were treated prenatally with dexamethasone. It was concluded that proper prenatal diagnosis and treatment of 21-OHD is effective in significantly reducing or eliminating virilization of the affected female. DOI: 10.1210/jc.80.7.2014
29. Forest MG, Betuel H, David M: Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update 88 of the French multicentric study. Endocrinol Res 1989, 15:277–301. DOI: 10.1080/07435808909039101
30. Forest MG, David M, Morel Y: Prenatal diagnosis and treatment of 21-hydroxylase deficiency [review]. J Steroid Biochem Mol Biol 1993, 45:75–82. DOI: 10.1016/0960-0760(93)90125-G
31. Wilson RC, Wei JQ, Cheng KC, et al.: Rapid DNA analysis by allele-specific PCR for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab 1995, 80:1635–1640. DOI: 10.1210/jc.80.5.1635
32. Carlson AD Obeid JS Kanellopoulou N, et al.: Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. In Xth International Congress on Hormonal Steroids. Edited by Labrie F. Quebec, CA. J Steroid Biochem Mol Biol 1999, 69:19–29.
33. Bouchard M, Forest MG, David M, et al.: Familial congenital adrenal hyperplasia caused by 11 beta-hydroxylase. Failure of prevention of sexual ambiguity and prenatal diagnosis Pediatrie 1989, 44:637–640.
34. Curnow KM, Slutsker L, Vitek J, et al.: Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci U S A 1993, 90:4552–4556. DOI: 10.1073/pnas.90.10.4552
35. Geley S, Kapelari K, Johrer K, et al.: CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. J Clin Endocrinol Metab 1996, 81:2896–2901. DOI: 10.1210/jc.81.8.2896
36. Cerame BI, Newfield RS, Wilson RC, New MI: Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia In Diagnosis and Treatment of the Unborn Child. Edited by New MI. Reddick, FL: Idelson-Gnocchi Ltd.; 1999:175–178.
37. Cerame BI, Newfield RS, Pascoe L, et al.: Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia J Clin Endocrinol Metab 1999, 84:3129–3134. A report of the first prenatal diagnosis and treatment with dexamethasone of an affected female with 11b-hydroxylase deficiency (11β-OHD). The treatment was successful, as the newborn had normal female external genitalia. A review of the literature of the prenatal diagnosis and treatment experience in 11β-OHD is also included. DOI: 10.1210/jc.84.9.3129