ВГКН: литература

1. Azziz R, et al. Pseudogene/functional gene ratio in late-onset 21- hydro-xylase-deficient adrenal hyperplasia. Am J Obstet Gynecol 162:633,1990.

2. Biglieri EG, Kater CE. 17 alpha-hydroxylation deficiency. In DH Nelson (ed), New aspects of adrenal cortical disease. Endocrinol Metab Clin North Am 20:257, 1991.

3. Bongiovanni AM. Acquired adrenal hyperplasia, with special reference to 3 beta-hydroxysteroid dehydrogenase. Fertil Steril 35:599, 1981.

4. Bongiovanni AM. Congenital adrenal hyperplasia due to 3 beta-hyd- roxysteroid dehydrogenase deficiency. In MI New, LS Levine (eds), Adrenal Diseases in Childhood. Basel: Karger, 13:72, 1984.

5. Bouchard M, et al. Observation familiale d'hyperplasie congenitale des surrenales par deficit en 11 beta hydroxylase. Echec de la prevention de I'anibiguite sexuelle et du diagnostic antenatal. Pediatrie 44:647, 1989.

6. Cravioto MDC, et al. A new inherited variant of 3 beta hydroxysteroid dehydrogenase-isomerase deficiency syndrome: Evidence for the existence of two isoenzymes. J Clin Endocrinol Metab 62:360, 1986.

7. Cutler GB, Lane L. Congenital adrenal hyperplasia due to 21- hydroxylase deficiency. N Engl J Med 323:1806, 1990.

8. Degenhart HJ. Trader's syndrome (congenital lipoid adrenal hyperplasia). In MI New, LS Levine (eds), Adrenal Diseases in Childhood. Basel: Karger, 13:125, 1984.

9. Dupont B, et al. Close genetic linkage between HLA and congenital ad-renal hyperplasia (21-hydroxylase deficiency). Lancet 2:1309, 1977.

10. Eldar-Geva T, et al. Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia. N Engl J Med 323:855, 1990.

11. Feuillan P, et al. The hypothalamic-pituitary-adrenal axis in partial (late-onset) 21-hydroxylase deficiency. J Clin Endocrinol Metab 67:154, 1988.

12. Gueux B, et al. Prenatal diagnosis of 21 hydroxylase deficiency congenital adrenal hyperplasia by simultaneous radioimmunoassay of 21- deoxycor-tisol and 17 hydroxyprogesterone in amniotic fluid. J Clin Endocrinol Metab 66:534, 1988.

13. Keenan BS, et al. Inappropriate adrenal androgen secretion with once-a-day corticosteroid therapy for congenital adrenal hyperplasia. J Pediatr 116:133, 1990.

14. Kohn B, et al. Late-onset steroid 21-hydroxylase deficiency: A variant of classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 55:817, 1982.

15. Lachance Y, et al. Characterization of human 3 beta hydroxysteroid de-hydrogenase/ DELTA 5- DELTA 4-isomerase gene and its expression in mammalian cells. J Biol Chem 265:2046, 1990.

16. Levine LS, Pang S. Prenatal diagnosis and treatment of congenital adrenal hyperplasia. In A Milunsky (ed), Genetic Disorders and the Fetus. Baltimore: Johns Hopkins University Press, 1992. Pp. 425.

17. Levine LS, et al. Genetic mapping of the 21-hydroxylase deficiency gene within the HLA linkage group. N Engl J Med 299:911, 1978.

18. Linder B, et al. Alternate day prednisone therapy in congenital adrenal hyperplasia: Adrenal androgen suppression and normal growth. J Clin Endocrinol Metab 69:191, 1989.

19. Mantero F, Scaroni C. Enzymatic defects of steroidogenesis: 17 alpha-hydroxylase. In MI New, LS Levine (eds), Adrenal diseases in childhood [Laron Z, ed Pediatric and adolescent endocrinology; vol 13]. Basel: Karger, 13:83, 1984.

20. Matteson KJ, et al. Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine sequence P450scc oligodeoxyribonucleotide probes. Endocrinology 118:1296, 1986.

21. Mendonca BB, et al. Male pseudohermaphroditism due to nonsalt- losing 3 beta-hydroxysteroid dehydrogenase deficiency: Gender role change and absence of gynecomastia at puberty. J Steroid Biochem 28:669, 1987.

22. Migeon CJ. Comments about the need for prenatal treatment of conge-nital adrenal hyperplasia due to 21 hydroxylase deficiency (Editorial). J Clin Endocrinol Metab 70:836, 1990.

23. Miller WL. Molecular biology of steroid hormone synthesis. Endocr Rev 9:295, 1988.

24. Miller WL, Levine LS. Molecular and clinical advances in congenital ad-renal hyperplasia. J Pediatr 111:1, 1987.

25. Miller WL, Morel Y. The molecular genetics of 21 hydroxylase deficiency. Annu Rev Genet 23:371, 1989.

26. Morel Y, et al. Frequency of the 8 known deleterious point mutations of the CYP21B gene in more than 100 families with 21- hydroxylase deficiency (САН): Implications for prenatal diagnosis. Program and Abstracts; Annual Meeting of the Endocrine Society, 1991. P. 375.

27. Morel Y, et al. Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Invest 83:527, 1989.

28. Mulaikal RM, et al. Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 316:178, 1987.

29. Oberfield SE. et al. Adrenal steroidogenic function in a black and Hispanic population with precocious pubarche. J Clin Endocrinol Metab 70:76, 1990.

30. Pang S, Clark A. Newborn screening, prenatal diagnosis, and prenatal treatment of congenital adrenal hyperplasia due to 21- hydroxylase defi-ciency. Trends Endocrinol Metab 1:300^ 1990.

31. Pang S, et al. Puberty in congenital adrenal hyperplasia. In MM Grum-bach, PC Sizonenko, ML Aubert (eds), Control of the Onset of Puberty. Baltimore: Williams & Wilkins, 1990. Pp. 669.

32. Pang S, et al. Late-onset adrenal steroid 3 beta hydroxysteroid dehydro-genase deficiency. I. A cause of hirsutism in pubertal and postpubertal women. J Clin Endocrinol Metab 60:428, 1985.

33. Pang S, et al. Maternal side-effects of prenatal dexamethasone therapy for fetal congenital adrenal hyperplasia. J Clin Endocrinol Metab 75:249, 1992.

34. Pang S, et al. Microfilter paper method for 17 alpha hydroxyprogester-one radioimmunoassay: Its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 45:1003, 1977.

35. Pang S, et al. Nonsalt-losing congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency with normal glomerulo- sa function. J Clin Endocrinol Metab 56:808, 1983.

36. Pang S, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81:866, 1988.

37. Pescovitz OH, et al. True precocious puberty complicating congenital ad-renal hyperplasia: Treatment with a luteinizing hormone- releasing hor-mone analog. J Clin Endocrinol Metab 58:857, 1984.

38. Rheaume E, et al. Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. Nature Genet 1:239, 1992.

39. Rosier A, Lieberman E. Enzymatic defects of steroidogenesis: 11 beta-hy-droxylase deficiency congenital adrenal hyperplasia. In MI New, LS Le-vine (eds), Adrenal Diseases in Childhood. Basel: Karger, 13:47, 1984.

40. Rosier A, et al. 11 beta-hydroxylase deficiency congenital adrenal hyper-plasia: Update of prenatal diagnosis. J Clin Endocrinol Metab 66:830, 1988.

41. Speiser PW, New MI. An update of congenital adrenal hyperplasia. In F Lifshitz (ed), Pediatric Endocrinology. New York: Dekker, 1990. Pp. 307.

42. Speiser W, et al. Molecular genetic analysis of nonclassic steroid 21-hy-droxylase deficiency associated with HLA-B14,DR1. N Engl J Med 319:19, 1988.

43. Strachan T. Molecular genetics of congenital adrenal hyperplasia. Trends Endocr Metab 1:68, 1989.

44. Tusie-Luna MT, et al. Determination of functional effects of mutations in the steroid 21 hydroxylase gene (CYP21) using recombinant vaccinia virus. J Biol Chem 265:20916, 1990.

45. Wells G, Azziz R. Late onset adrenal hyperplasia: Mutation at codon 282 of the functional 21-hydroxylase gene is not ubiquitous. Fertil Steril 54:819, 1990.

46. White PC. Analysis of mutations causing steroid 21 hydroxylase deficiency. Endocr Res 15:239, 1989.

47. White PC, et al. Congenital adrenal hyperplasia. N Engl J Med 316:1519, 1580, 1987.

48. White PC, Pascoe L. Disorders of steroid 11 beta hydroxylase isoen-zymes. Trends Endocrinol Metab 3:229, 1992.

49. White PC, et al. A mutation of CYP11B1 (Arg-448 -> His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. JClin Invest 87:1664, 1991.

50. Yanase T, et al. 17 alpha hydroxylase/17,20-lyase deficiency: From clinical investigation to molecular definition. Endocr Rev 12:91, 1991.

51. Zachmann M, et al. Clinical and biochemical variability of congenital ad-renal hyperplasia due to 11 beta-hydroxylase deficiency: A study of 25 patients. J Clin Endocrinol Metab 56:222, 1983.