Carrier status for steroid 21-hydroxylase deficiency is only one factor in the variable phenotype of acne

Clinical Endocrinology

Volumn 48, Issue 2, 1998, Pages 209-215

  Ostlere, Lucy S ^a,b   Rumsby, Gillian ^b   Holownia, Peter ^b   Jacobs, Howard S ^d   Rustin, Malcolm H A ^a,b   Honour, John W ^b,c  

^a ROYAL FREE HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

^c MIDDLESEX HOSPITAL   (United Kingdom)

^d NONE

Author keywords

[No Author keywords available]

Indexed keywords

STEROID 21 MONOOXYGENASE;

ACNE; ADULT; ARTICLE; DISEASE ASSOCIATION; EXON; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC VARIABILITY; HETEROZYGOTE DETECTION; HORMONAL REGULATION; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY;

EID: 0031913676     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.1998.3811205.x     Document Type: Article

References (33)

1. Azziz, R., Bradley, E.L., Potter, H.D. & Boots, L.R. (1993) 3β-hydroxysteroid dehydrogenase deficiency in hyperandrogenism. American Journal of Obstetrics and Gynecology, 168, 889-895.
2. Azziz, R., Dewailly, D. & Owerbach, D. (1994) Nonclassic adrenal hyperplasia: current concepts. Journal of Clinical Endocrinology and Metabolism, 78, 810-815.
3. Belt, K.T., Carroll, M.C. & Porter, R.R. (1984) The structural basis of the multiple forms of complement component C4. Cell, 36, 907-914.
4. Bunce, M., O'Neill, C.M., Barnado, M.C.N.M., Krausa, P., Browning, M.J., Morris, P.J. & Welsh, K.I. (1995) Phototyping: comprehensive DNA typing for HLA A, B, C, DrB1, DrB3, DrB5 and DQB1 by PCR with 144 primer mixes utilising sequence-specific primers. Tissue Antigens, 46, 355-367.
5. Bunker, C.B., Newton, J.A., Kilborn, J., Patel, A., Conway, G.S., Jacobs, H.S., Greaves, M.W. & Dowd, P.M. (1989) Most women with acne have polycystic ovaries. British Journal of Dermatology, 121, 675-680.
6. Chrousos, G.P., Peck, G., Gross, E.G., Cutler, G.B. & Loriaux, D.L. (1982) Adrenal function in women with idiopathic acne. Journal of Investigative Dermatology, 78, 468-471.
7. Cutler, T.P. (ed.) (1985) A Suitable Case for Treatment? pp. 15-17. Medical Education Services, Oxford.
8. Day, D.J., Speiser, P.W., Schulze, 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.
9. Ebling, F.J.G. & Cunliffe, W.J. (1992) Disorders of sebaceous glands. In Textbook of Dermatology, Vol. 3, fifth edition (eds Champion. R.H., Burton, J.L. & Ebling, F.J.G.). p. 1699. Blackwell Scientific-Publications, Oxford.
10. Ferriman, D. & Gallwey, J.D. (1961) Clinical assessment of body hair growth in women. Journal of Clinical Endocrinology and Metabolism, 21, 1440-1447.
11. Gueux, B., Fiet, J., Pham-Huu-Trung, M.T., Villette, J.M., Gourmelen, M., Galons, H., Brerault, J.L., Vexiau, P. & Julien, R. (1986) Radioimmunoassay tor 21-deoxycortisol: clinical applications. Acta Endocrinologica, 108, 537-544.
12. 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 Science USA, 83, 2841-2845.
13. 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 events. Proceedings of the National Academy of Science USA, 85, 7486-7490.
14. Honour, J.W. & Rumsby, G. (1993) Problems in diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of Steroid Biochemistry and Molecular Biology, 45, 69-74.
15. Lucky, A.W., Rosenfeld, R.L., McQuire, J., Rudy, S. & Helke, J. (1986) Adrenal androgen hyperresponsiveness to adrenocorticotropin in women with acne and/or hirsutism: adrenal enzyme defects and exaggerated adrenarche. Journal of Clinical Endocrinology and Metabolism, 62, 840-848.
16. McLaughlin, B., Barrett, P., Finch, T. & Delvin, J.G. (1990) Late onset adrenal hyperplasia in a group of Irish females who presented with hirsutism, irregular menses and/or cystic acne. Clinical Endocrinology, 32, 57-64.
17. Mauvais-Jarvis, P., Charransol, G. & Bobas-Masson, F. (1973) Simultaneous determination of urinary androstanediol and testosterone as an evaluation of human androgenicity. Journal of Clinical Endocrinology and Metabolism, 36, 452-459.
18. Miller, W.L. (1994) Genetics, diagnosis and management of 21-hydroxylase deficiency. Journal of Clinical Endocrinology and Metabolism, 78, 241-246.
19. New, M.I., Lorenzen, F., Lerner, A.J., Kohn, B., Oberfield, S.E., Pollack, M.S., Dupont, B., Stoner, E., Levy, D.J., Pang, S. & Levine, L.S. (1983) Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. Journal of Clinical Endocrinology and Metabolism, 57, 320-326.
20. 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, 553-555.
21. Perry, L.A., Al-Dujaili, E.A.S. & Edwards, C.R.W. (1982) A direct radioimmunoassay for 11-deoxycortisol. Steroids, 39, 115-128.
22. Rose, L.I., Newmark, S.R., Stauss, J.S. & Pochi, P.E. (1976) Adrenocortical hydroxylase deficiencies in acne vulgaris. Journal of Investigative Dermatology, 66, 324-326.
23. Rumsby, G., Honour, J.W., Rodeck, C. (1993) Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene. Clinical Endocrinology, 38, 421-425.
24. Rumsby, G., Massoud, A.F., Avey, C. & Brook, C.G.D. (1996) Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing. Journal of Molecular Genetics, 33, 1-2.
25. Sansome, G. & Reisner, R.M. (1971) Differential rates of conversion of testosterone to dihydrotestosterone in acne and in normal human skin - a possible pathogenic factor in acne. Journal of Investigative Dermatology, 56, 366-372.
26. Schneider, P.M., Carroll, M.C, Alper, C.A., Rittner, C., Whitehead, A.S., Yunis, A.J. & Colten, H.R. (1986) Polymorphism of the human complement C4 and steroid 21-hydroxylase genes; restriction fragment length polymorphisms revealing structural deletions, homoduplications and size variants. Journal of Clinical Investigation, 78, 650-657
27. Schulze, E., Scharer, G., Rogatzki, A., Priebe, L., Lewicka, S., Bettemdorf, M., Hoepffner, W., Heinrich, H.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.
28. Speiser, P.W., Dupont, B., Rubenstein, 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.
29. Speiser, P.W., New, M.I. & White, P.C. (1988) Molecular genetic analysis of non-classical steroid 21-hydroxylase deficiency associated with HLA-B14, DR1. New England Journal of Medicine, 319, 19-23.
30. Speiser, P.W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M.T., 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.
31. Turner, E.I., Watson, M.J., Perry, L.A. & White, M.C. (1992) Investigation of adrenal function in women with oligomenorrhoea and hirsutism (clinical PCOS) from the north-east of England using an adrenal stimulation test. Clinical Endocrinology, 36, 389-397.
32. Uhring-Lambert, B., Goetz, J., Tongio, M.M., Mayer, S. & Hauptmann, G. (1984) C4 haplotypes and duplications at the C4A or C4B loci: frequency and associations with Bf, C2 and HLA-A, B, C, DR alleles. Tissue Antigens, 24, 70-72.
33. Zerah, M., Rheaume, E., Mani, P., Scharman, P., Simard, J., Labrie, F. & New, M.I. (1995) No evidence of mutations in the genes for type I and type II 3β-hydroxysteroid dehydrogenase (3βHSD) in non-classical 3βHSD deficiency. Journal of Clinical Endocrinology and Metabolism, 79, 1811-1817.