Carriers of 21-hydroxylase deficiency are not at increased risk for hyperandrogenism

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 2, 1997, Pages 479-485

  Knochenhauer, E S ^a   Cortet Rudelli, C ^d   Cunnigham, R D ^c   Conway Myers, B A ^a   Dewailly, D ^d   Azziz, R ^a,b,d  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b University of Alabama at Birmingham   (United States)

^c University of Alabama at Birmingham   (United States)

^d UNIV LILLE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PRASTERONE; STEROID 21 MONOOXYGENASE;

ADULT; ARTICLE; CAUCASIAN; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC SUSCEPTIBILITY; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HIRSUTISM; HUMAN; HYPERANDROGENISM; MENSTRUATION DISORDER; PREVALENCE; PRIORITY JOURNAL; STEROID 21 MONOOXYGENASE DEFICIENCY;

ADRENAL HYPERPLASIA, CONGENITAL; ADULT; FEMALE; HETEROZYGOTE; HUMANS; HYPERANDROGENISM; METABOLISM, INBORN ERRORS; MUTATION; PREVALENCE; RISK FACTORS; STEROID 21-HYDROXYLASE; TESTOSTERONE;

EID: 0031031621     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.2.479     Document Type: Article

References (42)

1. Speiser PW, Dupont B, Rubenstein P, Piazza A, Kastelan A, New MI. 1985 High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet. 37:650-667.
2. Azziz R, Owerbach D. 1995 Molecular abnormalities of the 21-hydroxylase gene in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to short-term adrenal stimulation. Am J Obstet Gynecol. 172:914-918.
3. Azziz R, Dewailly D, Owerbach D. 1994 Nonclassic adrenal hyperplasia: current concepts [Clinical Review 56]. J Clin Endocrinol Metab. 78:810-815.
4. Kuttenn F, Couillin P, Girard F, et al. 1985 Late-onset adrenal hyperplasia in hirsutism. N Engl J Med. 313:224-231.
5. Miller WL. 1994 Genetics, diagnosis, and management of 21-hydroxylase deficiency [Clinical Review 54]. J Clin Endocrinol Metab. 78:241-246.
6. Speiser PW, Dupont J, Zhu D, et al. 1992 Disease expression and molecular genotyping in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest. 90:584-595.
7. Wedell A, Ritzen EM, Haglund-Stengler B, Luthman H. 1996 Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. Proc Natl Acad Sci USA. 89:7232-7236.
8. White PC, New MI. 1992 Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab. 74:6-11.
9. Wells G, Acton Jr RT, Azziz R. 1993 Concordance of 21-hydroxylase gene ratio, human leukocyte antigen haplotyping and adrenal testing results in a family with late-onset adrenal hyperplasia. J Reprod Med. 38:615-620.
10. New MI, Lorenzen F, Lerner AJ, et al. 1983 Genotyping steroid 21-hydroxylase deficiency: hormonal reference data. J Clin Endocrinol Metab. 57:320-326.
11. Peter M, Sippell WG, Lorenzen F, Willig RP, Westphal E, Grosse-Wilde H. 1990 Improved test to identify heterozygotes for congenital adrenal hyperplasia without index case examination. Lancet. 335:1296-1299.
12. Gutai JP, Kowarski AA, Migeon CJ. 1977 The detection of the heterozygous carrier for congenital virilizing adrenal hyperplasia. J Pediatr. 90:924-929.
13. Knorr D, Bidingmaier F, Butenandt O, von Schnakenburg K, Wagner W. 1976 Test for heterozygosity of congenital adrenal hyperplasia. Acta Endocrinol (Copenh). 88:495-500.
14. Krensky AM, Bongiovanni AM, Marino J, Parks J, Tenore A. 1977 Identification of heterozygote carriers of congenital adrenal hyperplasia by radioimmunoassay of serum 17-OH progesterone. J Pediatr. 90:930-933.
15. Weil J, Bidlingmaier F, Sippell WG, Butenandt O, Knorr D. 1979 Comparison of two tests for heterozygosity in congenital adrenal hyperplasia (CAH). Acta Endocrinol (Copenh). 91:109-121.
16. Lee PA, Gareis FJ. 1975 Evidence for partial 21-hydroxylase deficiency among heterozygote carriers of congenital adrenal hyperplasia. J Clin Endocrinol Metab. 41:415-418.
17. Handelsman DJ, Howe CJ, Conway AJ, Turtle JR. 1983 Heterozygote detection in congenital adrenal hyperplasia. Clin Chem. 29:48-50.
18. Petersen KE, Svejgaard A, Nielsen MD, Dissing J. 1982 Heterozygotes and cryptic patients in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency). Horm Res. 16:151-159.
19. Gourmelen M, Gueux B, Pham Huu Trung MT, Fiet J, Raux-Demay MC, Girard F. 1987 Detection of heterozygous carriers for 21-hydroxylase deficiency by plasma 21-deoxycortisol measurement. Acta Endocrinol (Copenh). 116:507-512.
20. Pardini DP, Kater CE, Vieira JGH, Biglieri EG. 1983 Impaired mineralocorticoid hormone responses to adrenocorticotropin stimulation: additional characterization of heterozygosity for the 21-hydroxylase deficiency type of congenital adrenal hyperplasia. J Clin Endocrinol Metab. 57:1061-1066.
21. Endocrine Science. 1991 Adrenal steroid response to ACTH: pediatrics. 1991. Calbasas Hills: Endocrine Sciences.
22. Azziz R, Bradley Jr EL, Potter HD, Boots LR. 1993 3β-Hydroxysteroid dehydrogenase deficiency in hyperandrogenism. Am J Obstet Gynecol. 168:889-895.
23. Azziz R. 1992 Hirsutism in the pediatric or adolescent patient. In: Carpenter SE, Rock JA, eds. Pediatric and adolescent gynecology. New York: Raven Press; vol 17:239-266.
24. Azziz R, Bradley Jr EL, Huth J, Boots LR, Parker Jr CR, Zacur HA. 1990 Acute adrenocorticotropin-(1-24) (ACTH) adrenal stimulation in eumenorrheic women: reproducibility and effect of ACTH dose, subject weight and sampling time. J Clin Endocrinol Metab. 70:1273-1279.
25. Azziz R, Wells G, Zacur HA, Acton Jr RT. 1991 Abnormalities of 21-hydroxylase gene ratio and adrenal steroidogenesis in hyperandrogenic women with an exaggerated 17-hydroxyprogesterone response to acute adrenal stimulation. J Clin Endocrinol Metab. 73:1327-1331.
26. Wilson RC, Wei J, Cheng KC, Mercado AB, New MI. 1995 Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab. 80:1635-1640.
27. Azziz R, Wells G, Acton Jr RT, Zacur HA. 1990 Pseudogene/functional gene ratio in late-onset 21-hydroxylase deficient adrenal hyperplasia. Am J Obstet Gynecol. 162:633-638.
28. Maniatis T, Fitsch EF, Sambrook J. 1982 Molecular cloning: a laboratory manual. Cold Spring Harbor: Cold Spring Harbor Laboratory.
29. Owerbach D, Sherman L, Ballard A, Azziz R. 1992 Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. Mol Endocrinol. 6:1211-1215.
30. Wells G, Azziz R. 1990 Late onset adrenal hyperplasia: mutation at codon 282 of the functional 21-hydroxylase gene is not ubiquitous. Fertil Steril. 54:819-823.
31. White PC, Vitek A, Dupont B, New MI. 1988 Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci USA. 85:4436-4440.
32. Honour JW, Rumsby G, Holownia P, Ostlere L, Rustin MHA. High prevalence of carriers for steroid 21-hydroxylase deficiency in females with postadolescent acne [Abstract]. Proc of the 76th Annual Meet of The Endocrine Soc. 1994; P-221.
33. Zawadzki JK, Dunaif A. 1992 Diagnostic criteria for polycystic ovary syndrome: towards a rational approach. In: Dunaif A, Givens JR, Haseltine F, Merriam GR, eds. Polycystic ovary syndrome. Boston: Blackwell; 377-384.
34. Ferrimen D, Gallwey JD. 1961 Clinical assessment of body hair growth in women. J Clin Endocrinol Metab. 21:1440-1447.
35. Hartz AJ, Barboriak PN, Wong A, Katayama KP, Rimm AA. 1979 The association of obesity with infertility and related menstrual abnormalities in women. Int J Obes. 3:57-73.
36. McKnight E. 1964 The prevalence of hirsutism in young women. Lancet. 1:410-413.
37. Clayton RN, Ogden V, Hodgkinson J, et al. 1992 How common are polycystic ovaries in normal women and what is their significance for the fertility of the population. Clin Endocrinol (Oxf). 37:127-134.
38. Farquhar CM, Birdsall M, Manning P, France JT. 1994 The prevalence of polycystic ovaries on ultrasound scanning in a population of randomly selected women. Aust NZ Obstet Gynecol. 34:67-72.
39. Polson DW, Wadsworth J, Adams J, Franks S. 1988 Polycystic ovaries-a common finding in normal women. Lancet. 1:870-872.
40. Goldzieher JW. 1981 Polycystic ovarian disease. Fertil Steril. 35:371-394.
41. Speiser PW, Serrat J, New MI, Gertner JM. 1992 Insulin insensitivity in adrenal hyperplasia due to nonclassical steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab. 75:1421-1424.
42. Speiser PW, White PC, Dupont J, Zhu D, Mercado AB, New MI. 1994 Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot. Hum Genet. 93:424-428.