Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency

Clinical Pediatric Endocrinology

Volumn 17, Issue 4, 2008, Pages 95-102

  Tajima, Toshihiro ^a   Fujieda, Kenji ^b  

^a HOKKAIDO UNIVERSITY   (Japan)

^b ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

Dexamethasone; Prenatal diagnosis; Prenatal treatment; Steroid 21 hydroxylase

Indexed keywords

DEXAMETHASONE;

CHORION VILLUS SAMPLING; FOLLOW UP; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEALTH CENTER; JAPAN; KARYOTYPE; MEDICAL ETHICS; NONHUMAN; PATHOPHYSIOLOGY; PRENATAL DIAGNOSIS; REVIEW; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 56049100045     PISSN: 09185739     EISSN: 13477358     Source Type: Journal    
DOI: 10.1297/cpe.17.95     Document Type: Review

References (39)

1. Speiser PW, White PC.Congenital adrenal hyperplasia. N Engl J Med 2003;349:776-88.
2. New MI. An update of congenital adrenal hyperplasia. Ann NY Acad Sci 2004;1038:14-43.
3. Merke DP, Bornstein SR.Congenital adrenal hyperplasia. Lancet 2005;365:2125-36.
4. Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y. Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proc Natl Acad Sci USA 1986;83:2841-5.
5. Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA 1988;85:7486-90.
6. Higashi Y, Tanae A, Inoue H, Fujii-Kuriyama Y. Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency. Am J Hum Genet 1988;42:17-25.
7. Tajima T, Fujieda K, Nakayama K, Fujii-Kuriyama Y. Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism. J Clin Invest 1993;92:2182-90.
8. Tusié-Luna MT, White PC. Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proc Natl Acad Sci USA 1995;92:10796-800.
9. Tajima T, Fujieda K, Fujii-Kuriyama Y. De novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings. J Clin Endocrinol Metab 1993;77:86-9.
10. Miller WL. Clinical review 54: Genetics, diagnosis, and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 1994;78:241-6.
11. Wedell A. Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment. Acta Paediatr 1998;87:159-64.
12. Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y. Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. Proc Natl Acad Sci USA 1988;85:7486-590.
13. Higashi Y, Hiromasa T, Tanae A, Miki T, Nakura J, Kondo T, et al. Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency. J Biochem 1991;109:638-44.
14. Bornstein SR, Tajima T, Eisenhofer G, Haidan A, Aguilera G. Adrenomedullary function is severely impaired in 21-hydroxylase-deficient mice. FASEB J 1999;13:1185-94.
15. Merke DP, Chrousos GP, Eisenhofer G, Weise M, Keil MF, Rogol AD, et al. Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency. N Engl J Med 2000;343:1362-8.
16. Charmandari E, Eisenhofer G, Mehlinger SL, Carlson A, Wesley R, Keil MF, et al. Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency. J Clin Endocrinol Metab 2002;87:3031-7.
17. Jeffcoate TN, Fliegner JR, Russell SH, Davis JC, Wade AP. Diagnosis of the adrenogenital syndrome before birth. Lancet 1965;18:553-5.
18. Arai K, Kuwabara Y, Okinaga S. The effect of adrenocorticotropic hormone and dexamethasone, administered to the fetus in utero, upon maternal and fetal estrogens. Am J Obstet Gynecol 1972;113:316-22.
19. Forest MG, David M, Morel Y. Prenatal diagnosis and treatment of 21-hydroxylase deficiency. J Steroid Biochem Mol Biol 1993;45:75-82.
20. New MI, Carlson A, Obeid J, Marshall I, Cabrera MS, Goseco A, et al. Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J Clin Endocrinol Metab 2001;86:5651-7.
21. Nimkarn S, New MI. Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Nat Clin Pract Endocrinol Metab 2007;3:405-13.
22. Forest MG, Dorr HG. Prenatal therapy in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Retrospective follow-up study of 253 treated pregnancies in 215 families. Endocrinologist 2003;13:252-9.
23. Lajic S, Wedell A, Bui TH, Ritzén EM, Holst M. Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 1998;83:3872-80.
24. Migeon CJ. Comments about the need for prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 1990;70:836-7.
25. Pang S, Clark AT, Freeman LC, Dolan LM, Immken L, Mueller OT, et al. Maternal side effects of prenatal dexamethasone therapy for fetal congenital adrenal hyperplasia. J Clin Endocrinol Metab 1992;75:249-53.
26. Seckl JR, Miller WL. How safe is long-term prenatal glucocorticoid treatment? JAMA 1997;20278:549.
27. Miller WL. Dexamethasone treatment of congenital adrenal hyperplasia in utero: an experimental therapy of unproven safety. J Urol 1999;162:537-40.
28. Raff H. Neonatal dexamethasone therapy: short-and long-term consequences. Trends Endocrinol Metab 2004;15:351-2.
29. Dammann O, Matthews SG. Repeated antenatal glucocorticoid exposure and the developing brain. Pediatr Res 2001;50:563-4.
30. Lajic S, Nordenström A, Hirvikoski T. Long-term outcome of prenatal treatment of congenital adrenal hyperplasia. Endocr Dev 2008;13:82-98.
31. de Vries A, Holmes MC, Heijnis A, Seier JV, Heerden J, Louw J, et al. Prenatal dexamethasone exposure induces changes in nonhuman primate offspring cardiometabolic and hypothalamic-pituitary-adrenal axis function. J Clin Invest 2007;117:1058-67.
32. Hauser J, Dettling-Artho A, Pilloud S, Maier C, Knapman A, Feldon J, et al. Effects of prenatal dexamethasone treatment on postnatal physical, endocrine, and social development in the common marmoset monkey. Endocrinology 2007;148:1813-22.
33. Wang D, Vandermeulen J, Atkinson SA. Early life factors predict abnormal growth and bone accretion at prepuberty in former premature infants with/without neonatal dexamethasone exposure. Pediatr Res 2007;61:111-6.
34. O'Regan D, Kenyon CJ, Seckl JR, Holmes MC. Prenatal dexamethasone 'programmes' hypotension, but stress-induced hypertension in adult offspring. J Endocrinol 2008;196:343-52.
35. Meyer-Bahlburg HF, Dolezal C, Baker SW, Carlson AD, Obeid JS, New MI. Cognitive and motor development of children with and without congenital adrenal hyperplasia after earlypre-natal dexamethasone. J Clin Endocrinol Metab 2004;89:610-4.
36. Hirvikoski T, Nordenström A, Lindholm T, Lindblad F, Ritzén EM, Wedell A, et al. Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone. J Clin Endocrinol Metab 2007;92:542-8.
37. Tajima T, Fujieda K, Mikami A, Igarashi Y, Nakae J, Cutler GB Jr. Prenatal diagnosis of steroid 21-hydroxylase deficiency by the modified polymerase chain reaction to detect splice site mutation in the CYP21 gene. Endocr J 1998;45:291-5.
38. Kinoshita E, Hiroaki I, Okada T, Ogawa E, Kusuda S, Zeze S, et al. Prenatal diagnosis and treatment in steroid-21-hydroxylase deficiency: Results of nationwide questionnaire survey of pediatric endocrinologists. Hormone to Rinsyo 2002;50:35-41 (In Japanese).
39. Honda H, Miharu N, Ohashi Y, Ohama K. Successful diagnosis of fetal gender using conventional PCR analysis of maternal serum. Clin Chem 2001;47:41-6.