Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment

Annals of the New York Academy of Sciences

Volumn 1192, Issue , 2010, Pages 5-11

  Nimkarn, Saroj ^a   New, Maria I ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

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

Indexed keywords

17 OXOSTEROID; ANDROGEN; DEXAMETHASONE; DNA; HYDROCORTISONE; PREGNANETRIOL; STEROID 21 MONOOXYGENASE;

AMBIGUITY; AMNIOCENTESIS; BODY WEIGHT; CHORION VILLUS SAMPLING; CLITOROMEGALY; CONFERENCE PAPER; CONGENITAL ADRENAL HYPERPLASIA; CORTICOSTEROID THERAPY; DRUG BINDING; DRUG EFFICACY; DRUG SAFETY; EDEMA; GENE DELETION; GENITAL SYSTEM; GENITAL SYSTEM DISEASE; GENITOPLASTY; GENOTYPE; GLUCOSURIA; HUMAN; INCIDENCE; MOLECULAR GENETICS; MOTHER; PENILE CLITORIS; PHALLIC CLITORIS; POINT MUTATION; PREGNANT WOMAN; PRENATAL DIAGNOSIS; PROTEINURIA; SEX DIFFERENTIATION; SIDE EFFECT; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS; STRIA; SURGICAL TECHNIQUE; VIRILIZATION;

EID: 77950662467     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2009.05225.x     Document Type: Conference Paper

References (50)

1. New, M.I. & P.C. White. 1995. Genetic disorders of steroid metabolism. In Genetic and Molecular Biological Aspects of EndocrineDisease. R.V. Thakker, Ed.: 525-554. Baillìere Tindall. London.
2. New, M.I. & R.C. Wilson. 1999. Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. Proc. Natl. Acad. Sci. USA 96: 12790-12797.
3. White, P.C. & P.W. Speiser. 2000. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr. Rev. 21: 245-291.
4. Pang, S. & A. Clark. 1993. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: newborn screening and its relationship to the diagnosis and treatment of the disorder. Screening 2: 105-139.
5. Pang, S., W. Murphey, L.S. Levine, et al. 1982. A pilot newborn screening for congenital adrenal hyperplasia in Alaska. J. Clin. Endocrinol. Metab. 55: 413-420.
6. Therrell, Jr., B.L., S.A. Berenbaum, V. Manter-Kapanke, et al. 1998. Results of screening 1.9 million Texas newborns for 21-hydroxylase deficient congenital adrenal hyperplasia. Pediatrics 101: 583-590.
7. Lee, H.H., J.M. Kuo,H.T. Chao, et al. 2000. Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese. J. Clin. Endocrinol. Metab. 85: 597-600.
8. White, P.C. et al. 1986. Steroid 21-hydroxylase deficiency and the major histocompatibility complex. Hum. Immunol. 15: 404-415.
9. Carroll, M.C., R.D. Campbell & R.R. Porter. 1985.Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man. Proc. Natl. Acad. Sci. USA 82: 521-525.
10. White, P.C., M.T. Tusie-Luna, M.I. New & P.W. Speiser. 1994. Mutations in steroid 21-hydroxylase (CYP21). Hum. Mutat. 3: 373-378.
11. Stenson, P.D. et al. 2003. Human Gene Mutation Database (HGMD): 2003 update. Hum.Mutat. 21: 577-581.
12. Lee, H.H. et al. 2004. Use of PCR-based amplification analysis as a substitute for the southern blot method for CYP21 deletion detection in congenital adrenal hyperplasia. Clin. Chem. 50: 1074-1076.
13. Nimkarn, S. et al. 2003. Standardized biochemical diagnosis of 21-hydroxylase congenital adrenal hyperplasia, the forgotten essentials. In The Endocrine Society of Thailand, 15th Annual Meeting. The Endocrine Society of Thailand. Bangkok, Thailand.
14. Tukel,T. et al. 2003.Anovel semiquantitative polymerase chain eaction/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. 88: 5893-5897.
15. Mao, R. et al. 2002. Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions. Prenat. Diagn. 22: 1171-1176.
16. Day, D.J. et al. 1996. 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. 5: 2039-2048.
17. Jeffcoate, T. et al. 1965. Diagnosis of the adrenogenital syndrome before birth. Lancet 2: 553.
18. Levine, L. & P. White. 2004. Disorders of the adrenal glands. In Nelson Textbook of Pediatrics. R. Berhman, R. Kliegman & H. Jenson, Eds.: 1898-1916. Saunders. Philadelphia.
19. Moore, K. & T. Persaud. 2003. The urogenital system. In Before We Were Born: Essentials of Embryology and Birth Defects, 6th ed., pp. 230-261. Saunders. Philadelphia, PA.
20. Prader, A. & G. H.P. 1955. The syndrome of male pseudohermaphrodism in congenital adrenocortical hyperplasia without overproduction of androgens (adrenal male pseudohermaphrodism. Helv. Paediat. Acta 10: 397-412.
21. New, M.I. 2004. An update of congenital adrenal hyperplasia. Ann. N. Y. Acad. Sci. 1038: 14-43.
22. Goto, M. et al. 2006. In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development. J. Clin. Invest. 116: 953-960
23. Nicolaides,K., L. BrizotMde, F. Patel&R. Snijders. 1994. Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10-13 weeks' gestation. Lancet 344: 435-439.
24. Lo, Y.M.D. 2000. Fetal DNA in maternal plasma: biology and diagnostic implications. Clin. Chem. 46: 1903-1906.
25. Lo, Y.M., N. Corbetta, P.F. Chamberlain, et al. 1997. Presence of fetal DNA in maternal plasma and serum. Lancet 350: 385-487.
26. Lo, Y.M., M.S. Tein, T.K. Lau, et al. 1998. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am. J. Hum. Genet. 62: 768-775.
27. Forest, M. 2004. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum. Reprod. Update 10: 469-485.
28. David, M. & M.G. Forest. 1984. Prenatal treatment of congenital adrenal hyperplasia resulting from 21- hydroxylase deficiency. J. Pediatr. 105: 799-803. (Pubitemid 15206715)
29. New, M. et al. 2001. Extensive personal experience: prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J. Clin. Endocrinol. Metab. 86: 5651-5657.
30. New, M. et al. 2003. Update: prenatal diagnosis for congenital adrenal hyperplasia in 595 pregnancies. The Endocrinologist 13: 233-239.
31. Mercado, A.B. et al. 1995. Extensive personal experience: prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 80: 2014-2020.
32. Carlson, A.D. et al. 1999. Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21- hydroxylase deficiency. In Diagnosis and Treatment of the Unborn Child. M.I. New, Ed.: 75-84. Idelson-Gnocchi, Ltd. Reddick, FL.
33. Forest,M. 1998. Prenatal diagnosis, treatment, and outcome in infants with congenital adrenal hyperplasia. Curr. Opin. Endocrin. Diabet. 4: 209-217.
34. Lajic, S. et al. 1998. Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 83: 3872-3880.
35. Lajic, S. et al. 2004. Prenatal treatment of congenital adrenal hyperplasia. Eur. J. Endocrinol. 151(Suppl 3): U63-U69.
36. New, M. et al. 2002. Update: prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. In Hormonal and Genetic Basis of Sexual Differentiation Disorders. M. New, Ed. The Endocrinologist.
37. Koops, B.L., L.J.Morgan&F.C. Battaglia. 1982.Neonatal mortality risk in relation to birth weight and gestational age: update. J. Pediatr. 101: 969-977.
38. Goldman,A.,B. Sharpior&M.Katsumata. 1978.Human foetal palatal corticoid receptors and teratogens for cleft palate. Nature 272: 464-466.
39. Newnham, J.P. 2001. Is prenatal glucocorticoid administration another origin of adult disease? Clin. Exp. Pharmacol. Physiol. 28: 957-961.
40. Trautman, P.D. et al. 1996.Mothers' reactions to prenatal diagnostic procedures and dexamethasone treatment of CAH. J. Psycho. Obst. Gyn. 17: 175-181.
41. Hall, C. et al. 2004. Behavioral and physical masculinization are related to genotype in girls with congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 89: 419-424.
42. Meyer-Bahlburg, H.F., C. Dolezal, S.W. Baker, et al. 2004.Cognitive and motor development of childrenwith and without congenital adrenal hyperplasia after earlyprenatal dexamethasone. J. Clin. Endocrinol. Metab. 89: 610-614.
43. Meyer-Bahlburg,H. 1999.What causes lowrates of childbearing in congenital adrenal hyperplasia (CAH)? J. Clin. Endocrinol. Metab. 84: 1844-1847.
44. Meyer-Bahlburg,H. 2001. Gender and sexuality in classic congenital adrenal hyperplasia. Endocrinol. Metab. Clin. North Am. 30: 155-171.
45. Meyer-Bahlburg, H.F. et al. 1996. Gender change from female to male in classical congenital adrenal hyperplasia. Horm. Behav. 30: 319-332.
46. Dessens, A., F. Slijper&S. Drop. 2005. Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch. Sex Behav. 34: 389-397.
47. Meyer-Bahlburg, H.F. et al. 2004. Prenatal androgenization affects gender-related behavior but not gender identity in 5-12-year-old girls with congenital adrenal hyperplasia. Arch. Sex Behav. 33: 97-104.
48. Crouch,N.S. et al. 2008. Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia. J. Urol. 179: 634-638. E-pub 2007 Dec 21.
49. Speiser, P. & P. White. 2003. Congenital adrenal hyperplasia. N. Engl. J. Med. 349: 776-788.
50. Pang, S. & A. Clark. 1990. Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Trends Endocrinol. Metab. 1: 300-307.