Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

Clinical Endocrinology

Volumn 49, Issue 4, 1998, Pages 411-417

  Speiser, Phyllis W ^a   White, Perrin C ^b,c  

^a NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^b UNIVERSITY OF TEXAS AT DALLAS   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEXAMETHASONE; FLUDROCORTISONE; GLUCOCORTICOID; HYDROCORTISONE; STEROID; STEROID 21 MONOOXYGENASE;

ADRENALECTOMY; CONGENITAL ADRENAL HYPERPLASIA; CUSHING SYNDROME; GENOTYPE; HUMAN; HYPERTENSION; MOLECULAR GENETICS; PHENOTYPE; PRENATAL PERIOD; PRIORITY JOURNAL; REPRODUCTION; REVIEW; SIDE EFFECT; STEROID 21 MONOOXYGENASE DEFICIENCY; STEROIDOGENESIS; WEIGHT GAIN;

ADRENAL CORTEX HORMONES; ADRENAL HYPERPLASIA, CONGENITAL; FEMALE; GENE DELETION; GENOTYPE; HORMONES; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; STEROID 21-HYDROXYLASE;

EID: 0031716728     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.1998.00559.x     Document Type: Review

References (55)

1. Allen, D.B., Hoffmann, G.L., Fitzpatrick, P., Laessig, R., Maby, S. & Slyper, A. (1997) Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. Journal of Pediatrics, 130, 128-133.
2. Amor, M., Parker, K.L., Globerman, H., New, M.I. & White, P.C. (1988) Mutation in the CYP21B gene (Ile-172 - Asn) causes steroid 21-hydroxylase deficiency. Proceedings of the National Academy of Sciences USA, 85, 1600-1604.
3. Balsamo, A., Cacciari, E., Piazzi, S., Cassio, A., Bozza, A., Pirazzoli, P. & Zappulla, F. (1996) Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-95. Pediatrics, 98, 362-367.
4. Bose, H.S., Sugawara, T., Strauss, J.F. & Miller, W.L. (1996) The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. New England Journal of Medicine, 335, 1870-1878.
5. Cutfield, W.S. & Webster, D. (1995) Newborn screening for congenital adrenal hyperplasia in New Zealand. Journal of Pediatrics, 126, 118-121.
6. Day, D.J., Speiser, P.W., Schultz, E., Bettendorf, M., Fitness, J., Barany, F. & White, P.C. (1996) Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. Human Molecular Genetics, 5, 2039-2048.
7. Day, D., Speiser, P.W., White, P.C. & Barany, F. (1995) Detection of steroid 21-hydroxylase alleles using a multiplexed ligation detection reaction and gene-specific PCR. Genomics, 29, 152-162.
8. Dickerman, Z., Grant, D.R., Faiman, C. & Winter, J.S. (1984) Intraadrenal steroid concentrations in man: zonal differences and developmental changes. Journal of Clinical Endocrinology and Metabolism, 59, 1031-1036.
9. Fukushi, M., Arai, O., Mizushima, Y., Takasugi, N., Fujieda, K. & Matsuura, N. (1987) [Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 4. Development of enzyme-linked immunosorbent assay for dried blood cortisol and its application to neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency]. Nippon Naibunpi Gakkai Zasshi, 63, 205-214.
10. Goldman, A.S., Sharpior, B.H. & Katsumata, M. (1978) Human foetal palatal corticoid receptors and teratogens for cleft palate. Nature, 272, 464-466.
11. Higashi, Y., Hiromasa, T., Tanae, A., Miki, T., Nakura, J., Kondo, T., Ohura, T., Ogawa, E., Nakayama, K. & Fujii-Kuriyama, Y. (1991) 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 sleroid 21-hydroxylase deficiency. Journal of Biochemistry (Tokyo), 109, 638-644.
12. Higashi, Y., Tanae, A., Inoue, H., Hiromasa, T. & Fujii-Kuriyama, Y. (1988) Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450 (C21)] deficiency in humans: possible gene conversion products. Proceedings of the National Academy of Sciences of the USA, 85, 7486-7490.
13. Higashi, Y., Yoshioka, H., Yamane, M., Gotoh, O. & Fujii-Kuriyama, Y. (1986) Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene. Proceedings of the National Academy of Sciences USA, 83, 2841-2845.
14. Jaaskelainen, J. & Voutilainen, R. (1997) Growth of patients with 21-hydroxylase deficiency: an analysis of the factors influencing adult height. Pediatric Research, 41, 3033.
15. Knochenhauer, E.S., Cortet-Rudelli, C., Cunningham, R.D., Conway, B.A., Dewailly, D. & Azziz, R. (1997) Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism. Journal of Clinical Endocrinology and Metabolism, 82, 479-485.
16. Laue, L., Merke, D.P., Jones, J.V., Barnes, K.M., Hill, S. & Cutler, Jr G.B. (1996) A preliminary study of flutamide, testolactone, and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 81, 3535-3539.
17. Lin, D., Sugawara, T., Strauss, J.F., Clark, B.J., Stocco, D.M., Saenger, P., Rogol, A. & Miller, W.L. (1995) Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science, 267, 1828-1831.
18. Mercado, A.B., Wilson, R.C., Cheng, K.C., Wei, J.Q. & New, M.I. (1995) Prenatal treatment and diagnosis of congenital adrenal. Journal of Clinical Endocrinology and Metabolism, 80, 2014-2020.
19. Migeon, C.J. (1990) Editorial: Comments about the need for prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 70, 836-837.
20. Miller, W.L. & Seckl, J.R. (1997) How safe is longterm prenatal glucocorticoid treatment? Journal of the American Medical Association, 277, 1077-1079.
21. Mornet, E., Crete, P., Kuttenn, F., Raux-Demay, M.C., Boue, J., White, P.C. & Boue, A. (1991) Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. American Journal of Human Genetics, 48, 79-88.
22. Mulaikal, R.M., Migeon, C.J. & Rock, J.A. (1987) Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. New England Journal of Medicine, 316, 178-182.
23. New, M.I., Gertner, J.M., Speiser, P.W. & del Balzo, P. (1989) Growth and final height in classical and nonclassical 21hydroxylase deficiency. Journal of Endocrinological Investigation, 12, 915.
24. Ohkubo, S., Shimozawa, K., Matsumoto, M. & Kitagawa, T. (1992) Analysis of blood spot 17a-hydroxyprogesterone concentration in premature infants: proposal for cutoff limits in screening congenital adrenal hyperplasia. Acta Paediatrica Japonica, 34, 126-133.
25. Owerbach, D., Ballard, A.L. & Draznin, M.B. (1992) Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction. Journal of Clinical Endocrinology and Metabolism, 74, 553-558.
26. Owerbach, D., Crawford, Y.M. & Draznin, M.B. (1990) Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification. Molecular Endocrinology, 4, 125-131.
27. Pang, S., Pollack, M.S., Marshall, R.N. & Immken, L. (1990) Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. New England Journal of Medicine, 322, 111-115.
28. Premawardhana, L.D., Hughes, I.A., Read, G.F. & Scanlon, M.F. (1997) Longer term outcome in females with congenital adrenal hyperplasia (CAH): the Cardiff experience. Clinical Endocrinology, 46, 327-332.
29. Schulze, H., Scharer, G., Rogatzki, A., Priebe, L., Lewwicka, S., Bettendorf, M., Hoepffner, W., Heinrich, U.E. & Schwabe, U. (1995) Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid 21-hydroxylase. Endocrine Research, 21, 359-364.
30. Simard, J., Rheaume, E., Mebarki, F., Sanchez, R., New, M.I., Morel, Y. & Labrie, F. (1995) Molecular basis of human 3 beta-hydroxysteroid dehydrogenase deficiency. Journal of Steroid Biochemistry and Molecular Biology, 53, 127-138.
31. Speiser, P.W., Dupont, B., Rubinstein, P., Piazza, A., Kastelan, A. & New, M.I. (1985) High frequency of nonclassical steroid 21-hydroxylase deficiency. American Journal of Human Genetics, 37, 650-667.
32. Speiser, P.W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M.T., Lesser, M., New, M.I. & White, P.C. (1992) Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Investigation, 90, 584-595.
33. Speiser, P.W., New, M.I. & White, P.C. (1988) Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DRI. New England Journal of Medicine, 319, 19-23.
34. Speiser, P.W., White, P.C., Dupont, J., Zhu, D., Mercado, A.B. & New, M.I. (1994) Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot. Human Genetics, 93, 424-428.
35. Srikanth, M.S., West, B.R., Ishitani, M., Isaacs, H. Jr, Applebaum, H. & Costin, G. (1992) Benign testicular tumors in children with congenital adrenal hyperplasia. Journal of Pediatric Surgery, 27, 639-641.
36. Tusie-Luna, M.T., Speiser, P.W., Dumic, M., New, M.I. & White, P.C. (1991) A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. Molecular Endocrinology, 5, 685-692.
37. Tusie-Luna, M.T., Traktman, P. & White, P.C. (1990) Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus. Journal of Biological Chemistry, 265, 20916-20922.
38. Tusie-Luna, M.T. & White, P.C. (1995) Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms. Proceedings of the National Academy of Sciences USA, 92, 10796-10800.
39. Urban, M.D., Lee, P.A. & Migeon, C.J. (1978) Adult height and fertility in men with congenital virilizing adrenal hyperplasia. New England Journal of Medicine, 299, 1392-1396, 1978.
40. Van Wyk, J.J., Gunther, D.F., Ritzen, E.M., Wedell, A., Cutler, G.B.J., Migeon, C.J. & New, M.I. (1996) The use of adrenalectomy as a treatment for congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 81, 3180-3190.
41. Walker, B.R., Skoog, S.J., Winslow, B.H., Canning, D.A. & Tank, E.S. (1997) Testis sparing surgery for steroid unresponsive testicular tumors of the adrenogenital syndrome. Journal of Urology, 157, 1460-1463.
42. Wedell, A., Thilen, A., Ritzen, E.M., Stengler, B. & Luthman, H. (1994) Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestations. Journal of Clinical Endocrinology and Metabolism, 78, 1145-1152.
43. White, P.C. (1994a) Genetic diseases of steroid metabolism. Vitamins and Hormones, 49, 131-195.
44. White, P.C., Curnow, K.M. & Pascoe, L. (1994b) Disorders of steroid 11 beta hydroxylase isozymes. Endocrine Reviews, 15, 421-138.
45. White, P.C., Grossberger, D., Onufer, B.J., Chaplin, D.D., New, M.I., Dupont, B. & Strominger, J.L. (1985) Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man. Proceedings of the National Academy of Sciences USA, 82, 1089-1093.
46. White, P.C., New, M.I. & Dupont, B. (1986) Structure of human steroid 21-hydroxylase genes. Proceedings of the National Academy of Sciences USA, 83, 5111-5115.
47. White, P.C. & Speiser, P.W. (1994) Steroid 11 beta-hydroxylase deficiency and related disorders. Endocrinology and Metabolism Clinics of North America, 23, 325-339.
48. White, P.C., Vitek, A., Dupont, B. & New, M.I. (1988) Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proceedings of the National Academy of Sciences USA, 85, 4436-4440.
49. Willi, U., Atares, M., Prader, A. & Zachmann, M. (1991) Testicular adrenal-like tissue (TALT) in congenital adrenal hyperplasia: detection by ultrasonography. Pediatric Radiology, 21, 284-287.
50. Wilson, R.C., Mercado, A.B., Cheng, K.C. & New, M.I. (1995) Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. Journal of Clinical Endocrinology and Metabolism, 80, 2322-2329.
51. Witchel, S.F., Bhamidipati, D.K., Hoffman, E.P. & Cohen, J.B. (1996) Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 81, 4081-4088.
52. Yanase, T. (1995) 17 alpha-Hydroxylase/17,20-lyase defects. Journal of Steroid Biochemistry and Molecular Biology, 53, 153-157.
53. Yanase, T., Simpson, E.R. & Waterman, M.R. (1991) 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocrine Reviews, 12, 91-108.
54. Yu, A.C. & Grant, D.B. (1997) Adult height in women with early-treated congenital adrenal hyperplasia (21-hydroxylase type): relation to body mass index in earlier childhood. Acta Paediatrica, 84, 899-903.
55. Zachmann, M., Manella, B., Kempken, B., Knorr-Muerset G., Atares, M. & Prader, A. (1984) Ovarian steroidogenesis in an adrenalectomized girl with 21-hydroxylase deficiency. Clinical Endocrinology, 21, 575-582.