Prenatal diagnosis and treatment of congenital adrenal hyperplasia

Hormone Research

Volumn 67, Issue 2, 2007, Pages 53-60

  Nimkarn, Saroj ^a   New, Maria I ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

21 hydroxylase deficiency; Congenital adrenal hyperplasia; Prenatal diagnosis; Prenatal treatment; Steroid hydroxylases

Indexed keywords

DEXAMETHASONE; DNA; STEROID 21 MONOOXYGENASE;

CLEFT PALATE; COGNITIVE DEFECT; COGNITIVE DEVELOPMENT; CONGENITAL ADRENAL HYPERPLASIA; DIAGNOSTIC PROCEDURE; DRUG ABSORPTION; DRUG BINDING; DRUG EXPOSURE; DRUG HALF LIFE; DRUG SAFETY; DRUG TOLERANCE; DRUG TRANSPORT; DRUG TREATMENT FAILURE; DRUG WITHDRAWAL; EDEMA; EMOTION; FETUS DEATH; FETUS OUTCOME; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LONG TERM CARE; MEDICAL DOCUMENTATION; MOLECULAR GENETICS; MOTHER; OPTIMAL DRUG DOSE; PATIENT COMPLIANCE; PHYSICAL DEVELOPMENT; PLACENTA DISORDER; PREIMPLANTATION EMBRYO; PRENATAL DEVELOPMENT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SHORT SURVEY; SIDE EFFECT; STEROID 21 MONOOXYGENASE DEFICIENCY; STRIA; TREATMENT OUTCOME; UNSPECIFIED SIDE EFFECT; VIRILIZATION; WEIGHT GAIN;

ADRENAL HYPERPLASIA, CONGENITAL; ALGORITHMS; DEXAMETHASONE; FEMALE; FETAL DISEASES; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; PRENATAL EXPOSURE DELAYED EFFECTS; STEROID 21-HYDROXYLASE;

EID: 33847345579     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000096353     Document Type: Short Survey

References (49)

1. New M: Prenatal treatment of congenital adrenal hyperplasia: the United States experience. Endocrinol Metab Clin North Am 2001;30:1-13.
2. New MI, White PC: Genetic disorders of steroid metabolism; in Thakker RV (ed): Genetic and Molecular Biological Aspects of Endocrine Disease. London, Bailliere Tindall, 1995, pp 525-554.
3. Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC, et al: Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988;81:866-874.
4. New MI, Wilson RCW: Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci USA 1999:12790-12797.
5. Nimkarn S, Weerakulwattana L, Panamonta O, Kumpornsin K, Limwongse C: Standardized biochemical diagnosis of 21-hydroxylase congenital adrenal hyperplasia, the forgotten essentials; in The Endocrine Society of Thailand, 15th Annual Meeting; 2003 October 30-November 1. Bangkok, Thailand, The Endocrine Society of Thailand, 2003, pp 12-13.
6. Villee DB: The development of steroidogenesis. Am J Med 1972;53:533-544.
7. New MI: An update of congenital adrenal hyperplasia. Ann N Y Acad Sci 2004;1038:14-43.
8. White PC, New MI, Dupont B: Structure of the human steroid 21-hydroxylase genes. Proc Natl Acad Sci USA 1986;83:5111-5115.
9. White P, Speiser P: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-291.
10. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, et al: Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003;21:577-581.
11. White P, Vitek A, Dupont B, New M: Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA 1998;85:4436-4440.
12. 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.
13. Krone N, Braun A, Roscher A, Knorr D, Schwarz H: Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab 2000;85:1059-1065.
14. New M, Carlson A, Obeid J, Marshall I, Cabrera M, Goseco A, et al: Extensive personal experience: prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J Clin Endocrinol Metab 2001;86:5651-5657.
15. Dolzan V, Solyom J, Fekete G, Kovacs J, Rakosnikova V, Votava F, et al: Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia. Eur J Endocrinol 2005;153:99-106.
16. Friaes A, Rego AT, Aragues JM, Moura LF, Mirante A, Mascarenhas MR, et al: CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions. Mol Genet Metab 2006;88:58-65.
17. Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA: CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. J Clin Endocrinol Metab 2003;88:3852-3859.
18. Jeffcoate T, Fleigner J, Russell S, Davis J, Wade A: Diagnosis of the adrenogenital syndrome before birth. Lancet 1965;2:553.
19. New M, Marshall I: Adrenal disorders. Pediatric endocrinology; in De Groot L (ed): Endotext (http://www.endotext.org).
20. Lee HH, Lee YJ, Chan P, Lin CY: Use of PCR-based amplification analysis as a substitute for the southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia. Clin Chem 2004;50:1074-1076.
21. Nimkarn S, Weerakulwattana L, Chaichanwatanakul K, et al: Comprehensive study of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in 92 Thai patients; in 11th Asian Congress of Pediatrics; 2003 November 2-7. Bangkok, Thailand, 11th Asian Congress of Pediatrics, 2003, p 80.
22. Tukel T, Uyguner O, Wei J, Yuksel-Apak M, Saka N, Song D, et al: A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency. J Clin Endocrinol Metab 2003;88:5893-5897.
23. Mao R, Nelson L, Kates R, Miller CE, Donaldson DL, Tang W, et al: Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions. Prenat Diagn 2002;22:1171-1176.
24. Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F, et al: Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Hum Mol Genet 1996;5:2039-2048.
25. Section on Endocrinology and Committee on Genetics: Technical report: congenital adrenal hyperplasia. Pediatrics 2000;106:1511-1518.
26. Rijnders RJ, van der Schoot CE, Bossers B, de Vroede MA, Christiaens GC: Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet Gynecol 2001;98:374-378.
27. Costa JM, Benachi A, Gautier E: New strategy for prenatal diagnosis of X-linked disorders. N Engl J Med 2002;346:1502.
28. Fiorentino F, Biricik A, Nuccitelli A, De Palma R, Kahraman S, Iacobelli M, et al: Strategies and clinical outcome of 250 cycles of preimplantation genetic diagnosis for single gene disorders. Hum Reprod 2006;21:670-684.
29. David M, Forest MG: Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. J Pediatr 1984;105:799-803.
30. Mercado AB, Wilson RC, Cheng KC, Wei JQ, New MI: 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.
31. Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI: Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment; in Labrie F (ed): Xth International Congress on Hormonal Steroids; 1999 June 17-21, 1998. Quebec, Canada, J Steroid Biochem Mol Biol, 1999, pp 19-29.
32. Clayton PE, Miller WL, Oberfield SE, Ritzen EM, Sippell WG, Speiser PW: Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res 2002;58:188-195.
33. Seckl JR, Miller WL: How safe is long-term prenatal glucocorticoid treatment? JAMA 1997;277:1077-1079.
34. Forest M: Prenatal diagnosis, treatment, and outcome in infants with congenital adrenal hyperplasia. Curr Opin Endocrinol Diabet 1998;4:209-217.
35. New M, Carlson A, Obeid J, Marshall I, Cabrera M, Goseco A, et al: Update: Prenatal diagnosis for congenital adrenal hyperplasia in 595 pregnancies. Endocrinologist 2003;13:233-239.
36. Lajic S, Wedell A, Bui T, Ritzen E, Holst M: Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 1998;83:3872-3880.
37. Trautman PD, Meyer-Bahlburg HFL, Postelnek J, New MI: Mothers' reactions to prenatal diagnostic procedures and dexamethasone treatment of CAH. J Psychosom Obstet Gynaecol 1996;17:175-181.
38. Lajic S, Nordenstrom A, Ritzen EM, Wedell A: Prenatal treatment of congenital adrenal hyperplasia. Eur J Endocrinol 2004;151(suppl 3):U63-U69.
39. Koops BL, Morgan LJ, Battaglia FC: Neonatal mortality risk in relation to birth weight and gestational age: update. J Pediatr 1982;101:969-977.
40. Goldman A, Sharpior B, Katsumata M: Human foetal palatal corticoid receptors and teratogens for cleft palate. Nature 1978;272:464-466.
41. Trautman PD, Meyer-Bahlburg HF, Postelnek J, New MI: Effects of early prenatal dexamethasone on the cognitive and behavioral development of young children: results of a pilot study. Psychoneuroendocrinology 1995;20:439-449.
42. Meyer-Bahlburg H, Baker S, Carlson A, Obeid J, Vogiatzi M, Dolezal C, et al: Does genital status at birth predict gender-related behavior in girls with congenital adrenal hyperplasia; in International Academy of Sex Research 27th Annual Meeting. Montreal, Quebec, Canada, 2001, p 41.
43. Meyer-Bahlburg H, Dolezal C, Baker S, Carlson A, Obeid J, New M: Cognitive and motor development of children with and without congenital adrenal hyperplasia after early-prenatal dexamethasone. J Clin Endocrinol Metab 2004;89:610-614.
44. Meyer-Bahlburg H, Dolezal C, Haggerty R, Baker S, Enfield L, Sihler B, et al: Performance on cognitive tests in children with a history of prenatal dexamethasone exposure. Pediatr Res 2001;49:3-341.
45. Meyer-Bahlburg H, Dolezal C, Baker S, Carlson A, Obeid J, Vogiatzi M, et al: Diminished behavioral masculinization in girls with congenital adrenal hyperplasia after prenatal dexamethasone exposure. Horm Behav 2003;44:64.
46. Speiser P, White P: Congenital adrenal hyperplasia. N Engl J Med 2003;349:776-788.
47. 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.
48. New M: Prenatal treatment of congenital adrenal hyperplasia: authors differ with technical report. Pediatrics 2001;107:804.
49. Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, et al: Human Gene Mutation Database (MGMD): 2003 update. Hum Mutat 2003;21:577-581.