Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency

Clinical Endocrinology

Volumn 49, Issue 6, 1998, Pages 815-822

  Koppens, Paul F J ^a   Hoogenboezem, Theo ^a   Drop, Stenvert L S ^a   De Muinck, Sabine M P F ^a   Degenhart, Herman J ^a,b  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; STEROID 21 MONOOXYGENASE;

ALDOSTERONE BLOOD LEVEL; ALDOSTERONE RELEASE; ARTICLE; CASE REPORT; CHILD; CONGENITAL ADRENAL HYPERPLASIA; ENZYME ACTIVITY; HUMAN; HYDROCORTISONE BLOOD LEVEL; MALE; PRIORITY JOURNAL;

ADRENAL HYPERPLASIA, CONGENITAL; ALDOSTERONE; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA MUTATIONAL ANALYSIS; GENE DELETION; HISTOCOMPATIBILITY TESTING; HUMANS; HYDROCORTISONE; INFANT; MALE; MUTATION; RENIN; STEROID 21-HYDROXYLASE;

EID: 0032429677     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.1998.00431.x     Document Type: Article

References (37)

1. Abdelhamid, S., Lewicka, S., Bige, K., Haack, D., Lorenz, H., Nensel, U., Röckel, A., Fiegel, P., Walb, D. & Vescei, P. (1994) Role of 21-deoxyaldosterone in human hypertension. Journal of Steroid Biochemistry and Molecular Biology, 50, 319-327.
2. Antonipillai, I., Moghissi, E., Frasier, S.D. & Horton, R. (1983) The origin of plasma deoxycorticosterone in the syndrome of congenital adrenal hyperplasia and in acute states of adrenocorticotropin excess. Journal of Clinical Endocrinology and Metabolism, 57, 580-584.
3. Bormann, M., Kochlan, L., Knorr, D., Bidlingmaier, F. & Olek, K. (1992) Clinical heterogeneity of 21-hydroxylase deficiency of sibs with identical 21-hydroxylase genes. Acta Endocrinologica, 126, 7-9.
4. Brotherton, J. & Rothbart, B. (1990) Serum cortisol in adrenal hirsutism as estimated by five different methods. Journal of Steroid Biochemistry, 36, 641-649.
5. Casey, M.L., Winkel, C.A. & MacDonald, P.C. (1983) Conversion of progesterone to deoxycorticosterone in the human fetus: steroid 21-hydroxylase activity in fetal tissues. Journal of Steroid Biochemistry, 18, 449-452.
6. Egfjord, M. & Olgaard, K. (1992) Aldosterone metabolism in the isolated perfused liver of R and S hypertension-prone Dahl rats. American Journal of Physiology, 262, E488-E496.
7. De Lange, W.E., Sluiter, W.J., Pratt, J.J. & Doorenbos, H. (1980) Plasma 11-deoxycortisol, androstenedione, testosterone and ACTH in comparison with the urinary excretion of tetrahydro-11-deoxycortisol as indices of the pituitary-adrenal response to oral metyrapone. Acta Endocrinologica, 93, 488-494.
8. Franklin, S.O., Lieberman, S. & Greenfield, N.J. (1987) Further evidence that there is more than one adrenal 21-hydroxylase system. Journal of Steroid Biochemistry, 28, 749-757.
9. 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 steroid 21-hydroxylase deficiency. Journal of Biochemistry, 109, 638-644.
10. Hoffman, W.H., Shin, M.Y., Donohoue, P.A., Helman, S.W., Brown, S.L., Rosculet, G. & Mahesh, V.B. (1996) Phenotypic evolution of classic 21-hydroxylase deficiency. Clinical Endocrinology, 45, 103-109.
11. Horner, J.M., Hintz, R.L. & Luetscher, J.A. (1979) The role of renin and angiotensin in salt-losing, 21-hydroxylase-deficient congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 48, 776-783.
12. Jacobs, D.R., Van Der Poll, J., Gabrilove, J.L. & Soffer, L.J. (1961) 17α-hydroxyprogesterone - a salt-losing steroid: relation to congenital adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 21, 909-922.
13. James, V.H.T., Tunbridge, R.D.G., Wilson, G.A., Hutton, J., Jacobs, H.S. & Rippon, A.E. (1978) Steroid profiling: a technique for exploring adrenocortical physiology. In: The Endocrine Function of the Human Adrenal Cortex (eds V.H.T. James, M. Serio, G. Giusti & M. Martini), pp. 179-192. Academic Press, London.
14. Killeen, A.A., Sane, K.S. & Orr, H.T. (1991) Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene. Journal of Steroid Biochemistry and Molecular Biology, 38, 677-686.
15. Kohn, B., Day, D., Alemzadeh, R., Enerio, D., Patel, S.V., Pelczar, J.V. & Speiser, P.W. (1995) Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia. American Journal of Medical Genetics, 57, 450-154.
16. Koppens, P.F.J., Hoogenboezem, T., Halley, D.J.J., Barendse, C.A.M., Oostenbrink, A.J. & Degenhart, H.J. (1992) Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands. European Journal of Pediatrics, 151, 885-892.
17. Koppens, P.F.J., Hoogenboezem, T. & Degenhart, H.J. (1995) The PvuII restriction site in the second intron of the human 21-hydroxylase gene CYP21 is polymorphic. Clinical Genetics, 48, 109-110.
18. Lajic, S., Eidsmo, L. & Holst, M. (1995) Steroid 21-hydroxylase in the kidney: demonstration of levels of messenger RNA which correlate with the level of activity. Journal of Steroid Biochemistry and Molecular Biology, 52, 181-186.
19. Land, M. & Ulick, S. (1987) Identification of a mineralocorticoid receptor binding substance in the urine of patients with congenital adrenal hyperplasia. Journal of Steroid Biochemistry, 26, 207-211.
20. Lewicka, S., Winter, J., Bige, K., Bokkenheuser, V., Vecsei, P., Abdelhamid, S. & Heinrich, U. (1987) 21-deoxyaldosterone excretion in patients with primary aldosteronism and 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 64, 771-777.
21. Lewicka, S., Bige, K., Weindel, K., Winter, J., Pies, W. & Vecsei, P. (1990) Production of 21-deoxyaldosterone by rat adrenal tissue in vitro; evidence for an alternative biosynthetic pathway of aldosterone. Acta Endocrinologica, 123, 225-230.
22. Mellon, S.H. & Miller, W.L. (1989) Extraadrenal steroid 21-hydroxylation is not mediated by P450c21. Journal of Clinical Investigation, 84, 1497-1502.
23. Mornet, E., Crété, P., Kuttenn, F., Raux-Demay, M.C., Boué, J., White, P.C. & Boué, 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.
24. Schöneshofer, M. & Weber, B. (1983) Specific estimation of fifteen unconjugated, non-metabolized steroid hormones in human urine. Journal of Steroid Biochemistry, 18, 65-73.
25. Schulze, E., Scharer, G., Rogatzky, A., Priebe, L., Lewicka, 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.
26. Shackleton, C.H.L., Homoki, J. & Taylor, N.F. (1987) A paradox: elevated 21-hydroxypregnenolone production in newborns with 21-hydroxylase deficiency. Steroids, 49, 295-311.
27. Sinnott, P., Dyer, P.A., Price, D.A., Harris, R. & Strachan, T. (1989) 21-hydroxylase deficiency families with HLA identical affected and unaffected sibs. Journal of Medical Genetics, 26, 10-17.
28. Speiser, P.W., Agdere, L., Ueshiba, H., White, P.C. & New, M.I. (1991) Aldosterone synthesis in salt-wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase. New England Journal of Medicine, 324, 145-149.
29. 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.
30. Stoner, E., Dimartino-Nardi, J., Kuhnle, U., Levine, L.S., Oberfield, S.F., & New, M.I. (1986) Is salt-wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect? Clinical Endocrinology, 24, 9-20.
31. Van Vliet, A.A., Hackeng, W., Donker, A.J.M. & Meuwissen, S.G.M. (1992) Efficacy of low-dose captopril in addition to furosemide and spironolactone in patients with decompensated liver disease during blunted diuresis. Journal of Hepatoloxy, 15, 40-47.
32. Voutilainen, R. & Miller, W.L. (1986) Developmental expression of genes for the steroidogenic enzymes P450scc (20,22-desmolase), P450c17 (17α-hydroxylase/17,20-lyase), and P450c21 (21-hydroxylase) in the human fetus. Journal of Clinical Endocrinology and Metabolism, 63, 1145-1150.
33. 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 arc located near the genes encoding the fourth component of complement in man. Proceedings of the National Academy of Sciences of the USA, 82, 1089-1093.
34. White, P.C. (1994) Genetic diseases of steroid metabolism. Vitamins and Hormones, 49, 131-195.
35. Willard, H.H., Merritt Jr, L.L. & Dean, J.A. (1965) Instrumental Methods of Analysis, pp. 342-344. D. Van Nostrand Company. Princeton.
36. 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.
37. Winkel, C.A., Milewich, L., Parker, C.R., Gant, N.F., Simpson, E.R. & MacDonald, P.C. (1980) Conversion of plasma progesterone to deoxycorticosterone in men, nonpregnant and pregnant women, and adrenalectomized subjects. Journal of Clinical Investigation, 66, 803-812.