Pathophysiology, genetics, and treatment of hyperandrogenism

Pediatric Clinics of North America

Volumn 44, Issue 2, 1997, Pages 375-395

  Miller, W L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALDOSTERONE; ANTIANDROGEN; BETAMETHASONE; CORTISONE ACETATE; DEOXYCORTICOSTERONE; DEXAMETHASONE; FLUDROCORTISONE; HYDROCORTISONE; METHYLPREDNISOLONE; PREDNISOLONE; PREDNISONE; TRIAMCINOLONE;

ADRENAL HYPERPLASIA; FAMILY COUNSELING; GENETIC ANALYSIS; HIRSUTISM; HORMONE SUBSTITUTION; HUMAN; HYPERANDROGENISM; NEWBORN SCREENING; OVARY POLYCYSTIC DISEASE; PATHOGENESIS; PATHOPHYSIOLOGY; PRENATAL DIAGNOSIS; REVIEW; VIRILIZATION;

EID: 0031003932     PISSN: 00313955     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0031-3955(05)70482-X     Document Type: Article

References (86)

1. D. Apter A. Pakarinen G.L. Hammond R. Vihko Adrenocortical function in puberty Acta Paediatr Scand 68 1979 599 604
2. F. Arakane T. Sugawara H. Nishino Steroidogenic acute regulatory protein (StAR) retains activity in the absence of its mitochondrial import sequence: Implications for the mechanism of StAR action Proc Natl Acad Sci USA 93 1996 13731 13736
3. R. Azziz E.J. Bradley H. Potter Adrenal androgen excess in women: Lack of a role for 17-hydroxylase and 17,20-lyase dysregulation J Clin Endocrinol Metab 80 1995 400 405
4. R. Azziz D. Dewailly D. Owerbach Nonclassic adrenal hyperplasia: Current Concepts J Clin Endocrinol Metab 78 1994 810 815
5. R. Azziz G. Wells H.A. Zacur 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 1991 1327 1331
6. K. Baltensperger R.E. Lewis C.W. Woon Catalysis of serine and tyrosine autophosphorylation by the human insulin receptor Proc Natl Acad Sci USA 89 1992 7885 7889
7. R.B. Barnes R.L. Rosenfield S. Burstein Pituitary-ovarian responses to nafarelin testing in the polycystic ovary syndrome N Engl J Med 320 1989 559 565
8. I.Z. Beitenz F. Bayard I.G. Ances The metabolic clearance rate, blood production, interconversion and transplacental passage of cortisol and cortisone in pregnancy near term Pediatr Res 7 1973 509 519
9. R. Benediktsson R. Lindsay J. Noble Glucocorticoid exposure in utero: A new model for adult hypertension Lancet 341 1993 339 341
10. E.G. Biglieri M.A. Herron N. Brust 17α-hydroxylation deficiency in man J Clin Invest 15 1966 1945 1954
11. H.S. Bose T. Sugawara J.F. Strauss III The pathophysiology and genetics of congenital lipoid adrenal hyperplasia N Engl J Med 335 1996 1870 1878
12. J.F. Cara T. Moshang Jr A.M. Bongiovanni Elevated 17-hydroxy-progesterone and testosterone in a newborn with 3β-hydroxysteroid dehydrogenase deficiency N Engl J Med 313 1985 618 621
13. A.H. Carey K.L. Chan F. Short Evidence for a single gene effect in polycystic ovaries and male pattern baldness Clin Endocrinol 38 1992 653 658
14. Y.T. Chang L. Zhang H.S. Alkaddour Absence of molecular defect in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3β-HSD activity Pediatr Res 37 1995 820 824
15. J.E. Chin M. Dickens J.M. Tavare Overexpression of protein kinase C isozymes α, βI, λ and ε in cells overexpressing the insulin receptor: Effects on receptor phosphorylation and signaling J Biol Chem 268 1993 6338 6347
16. T.P. Ciaraldi A. El-Roeiy Z. Madar Cellular mechanisms of insulin resistance in polycystic ovarian syndrome J Clin Endocrinol Metab 75 1992 577 583
17. G.S. Conway J.W. Honour H.S. Jacobs Heterogeneity of the polycystic ovary syndrome: Clinical, endocrine and ultrasound features in 556 patients Clin Endocrinol 30 1989 459 470
18. R.M. Couch J. Muller J.S.D. Winter Regulation of the activities of 17α-hydroxylase and 17,20-desmolase in the human adrenal cortex: Kinetic analysis and inhibition by endogenous steroids J Clin Endocrinol Metab 63 1986 613 618
19. G.B. Cutler M. Glenn M. Bush Adrenarche: A survey of rodents, domestic animals and primates Endocrinology 103 1978 2112 2118
20. E. Ditkoff F. Fruzzetti L. Chang The impact of estrogen on adrenal androgen sensitivity and secretion in polycystic ovary syndrome J Clin Endocrinol Metab 80 1995 603 607
21. A. Dunaif Hyperandrogenic anovulation (PCOS): A unique disorder of insulin action associated with an increased risk of non-insulin-dependent diabetes mellitus Am J Med 98 Suppl 1A 1995 33 39
22. A. Dunaif D.R. Segal D.R. Shelley Evidence for distinctive and intrinsic defects in insulin action in polycystic ovary syndrome Diabetes 41 1992 1257 1266
23. A. Dunaif J. Xia C. Book Excessive insulin receptor serine phosphorylation in cultured fibroblasts and in skeletal muscle J Clin Invest 96 1995 801 810
24. D.A. Ehrmann R.B. Barnes R.L. Rosenfield Polycystic ovary syndrome as a form of functional ovarian hyperandrogenism due to dysregulation of androgen secretion Endocr Rev 16 1995 322 353
25. C.E. Fardella D.W. Hum J. Homoki Point mutation Arg440 to His in cytochrome P450c17 causes severe 17α-hydroxylase deficiency J Clin Endocrinol Metab 79 1994 160 164
26. C.E. Fardella W.L. Miller Molecular biology of mineralocorticoid metabolism Ann Rev Nutrition 16 1996 443 470
27. D. Ferriman A.W. Purdie The inheritance of polycystic ovarian disease and possible relationship to premature balding Clin Endocrinol 1 1979 291 299
28. J. Fiet B. Gueux M. Gourmelen Comparison of basal and adrenocorticotropin-stimulated plasma 21-deoxycortisol and 17-hydroprogesterone values as biological markers of late-onset adrenal hyperplasia J Clin Endocrinol Metab 66 1988 659 667
29. M.G. Forest H. Betuel M. David Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Update 88 of the French multicentric study Endocr Res 15 1989 277 301
30. M.G. Forest M. David Y. Morel Prenatal diagnosis and treatment of 21-hydroxylase deficiency J Steroid Biochem Mol Biol 45 1993 75 82
31. S. Franks Polycystic ovary syndrome: A changing perspective Clin Endocrinol 31 1989 87 120
32. W.M. Geissler D.L. Davis L. Wu Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3 Nat Genet 7 1994 34 39
33. D.H. Geller B.B. Mendonc¸a W.L. Miller The molecular basis of isolated 17,20 lyase deficiency [abstract] Pediatr Res 39 1996 89A
34. J.R. Givens Familial polycystic ovarian disease Endocrinol Metab Clin North Am 17 1988 1 17
35. U. Goebelsmann M. Zachmann V. Davajan Male pseudohermaphroditism consistent with 17,20-desmolase deficiency Gynecol Invest 7 1976 138 156
36. G. Grunberger Interplay between insulin signaling and protein kinase C Cellular Signaling 3 1991 171 177
37. E.A. Haan S.W. Sergeantson R. Norman Prenatal diagnosis and successful intrauterine treatment of a female fetus with 21-hydroxylase deficiency Med J Aust 156 1992 132 135
38. B.P. Hauffa W.L. Miller M.M. Grumbach Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20,22 desmolase) in a patient treated for 18 years Clin Endocrinol 23 1985 481 493
39. L. Iban˜ez N. Potau R. Virdis Postpubertal outcome in girls diagnosed of premature pubarche during childhood: Increased frequency of functional ovarian hyperandrogenism J Clin Endocrinol Metab 76 1993 1599 1603
40. J.R. Kerrigan J.D. Veldhuis S.A. Leyo Estimation of daily cortisol production and clearance rates in normal pubertal males by deconvolution analysis J Clin Endocrinol Metab 76 1993 1505 1510
41. C.R. Khan M.F. White S.E. Shelson The insulin receptor and its substrate: Molecular determinants of early events in insulin action Rec Prog Horm Res 48 1993 291 339
42. U. Kuhnle M. Bollinger H.P. Schwarz Partnership and sexuality in adult female patients with congenital adrenal hyperplasia: First results of a cross-sectional quality-of-life evaluation J Steroid Biochem Mol Biol 45 1993 123 126
43. G.C.L. Lachelin M. Barnett B.R. Hopper Adrenal function in normal women and women with the polycystic ovary syndrome J Clin Endocrinol Metab 62 1979 840 848
44. R.S. Legro The genetics of polycystic ovary syndrome Am J Med 98 suppl 1995 9 16
45. D. Lin T. Sugawara J.F. Strauss III Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis Science 267 1995 1828 1831
46. B.L. Linder N.V. Esteban A.L. Yergey Cortisol production rate in childhood and adolescence J Pediatr 117 1990 892 896
47. C. Liu G.A. Laughlin V.G. Fischer Marked attenuation of ultradian and circadian rhythms of dehydroepiandrosterone in postmenopausal women: Evidence for a reduced 17,20-demolase enzymatic activity J Clin Endocrinol Metab 71 1990 900 906
48. A.W. Lucky R.L. Rosenfield J. McGuire Adrenal androgen hyperresponsiveness to ACTH in women with acne and/or hirsutism: Adrenal enzyme defects and exaggerated adrenarche J Clin Endocrinol Metab 62 1986 840 848
49. O. Lunde P. Magnus L. Sandvik Familial clustering in the polycystic ovarian syndrome Gynecol Obstet Invest 28 1989 23 30
50. S.H. Mellon J.A. Kushner C. Vaisse Expression and regulation of adrenodoxin and P450scc mRNAs in rodent tissues DNA Cell Biol 10 1991 339 347
51. S.H. Mellon W.L. Miller Extra-adrenal steroid 21-hydroxylation is not mediated by P450c21 J Clin Invest 84 1989 1497 1502
52. A.B. Mercado R.C. Wilson K.C. Cheng Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency J Clin Endocrinol Metab 80 1995 2014 2020
53. W.L. Miller Molecular biology of steroid hormone synthesis Endocr Rev 9 1988 295 318
54. W.L. Miller Genetics, diagnosis, and management of 21-hydroxylase deficiency J Clin Endocrinol Metab 78 1994 241 246
55. W.L. Miller R.J. Auchus D.H. Geller The regulation of 17,20 lyase activity Steroids 62 1997 133 142
56. W.L. Miller L.S. Levine Molecular and clinical advances in congenital adrenal hyperplasia J Pediatr 111 1987 1 17
57. W.L. Miller J.B. Tyrrell The adrenal cortex P. Felig J.D. Baxter L. Frohman Endocrinology and Metabolism ed 3. 1995 McGraw-Hill New York 555 717
58. Y. Morel F. Mebarki E. Rhe´aume Structure-function relationships of 3β-hydroxysteroid dehydrogenase: Contributions made by the molecular genetics of 3β-HSD deficiency Steroids 62 1997 176 184
59. Y. Morel W.L. Miller Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency Adv Hum Genet 20 1991 1 68
60. R.M. Mulaikal C.J. Migeon J.A. Rock Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency N Engl J Med 316 1987 178 182
61. E. Oppenheimer B. Linder J. DiMartino-Nardi Decreased insulin sensitivity in prepubertal girls with premature adrenarche and acanthosis nigricans J Clin Endocrinol Metab 80 1995 614 618
62. N. Orentreich J.L. Brind R.L. Rizer Age changes and sex differences in serum dehydroepiandrosterone sulfate concentrations throughout adulthood J Clin Endocrinol Metab 59 1984 551 555
63. S. Pang A.T. Clark L.C. Freeman Maternal side-effects of prenatal dexamethasone therapy for fetal congenital adrenal hyperplasia J Clin Endocrinol Metab 75 1992 249 253
64. L.N. Parker W.D. Odell Control of adrenal androgen secretion Endocr Rev 1 1980 397 410
65. A. Penhoat P. Sanchez C. Jaillard Human proopiomelanocortin (79-96), a proposed cortical androgen stimulating hormone, does not affect steroidogenesis in cultured human adult adrenal cells J Clin Endocrinol Metab 72 1991 23 26
66. Penning TM. Hydroxysteroid dehydrogenases and their endocrine aspects. Endocr Rev, in press
67. M. Rapuano O.M. Rosen Phosphorylation of the insulin receptor by a casein kinase I-like enzyme J Biol Chem 266 1991 12902 12907
68. P. Robinson A. Bateman S. Mulay Isolation and characterization of three forms of joining peptide from adult pituitaries: Lack of adrenal androgen stimulating activity Endocrinology 129 1991 859 867
69. J.R. Seckl W.L. Miller How safe is long-term prenatal glucocorticoid treatment? J Am Med Assoc 27 2 1997
70. C.A. Sklar S.L. Kaplan M.M. Grumbach Evidence for dissociation between adrenarche and gonadarche: Studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence J Clin Endocrinol Metab 51 1980 548 556
71. M. Speek F. Barry W.L. Miller Alternate promoters and alternate splicing of human tenascin-X, a gene with 5′ and 3′ ends buried in other genes Hum Mol Genet 5 1996 1749 1758
72. P.W. Speiser B. Dupont P. Rubinstein High frequency of nonclassical steroid 21-hydroxylase deficiency Am J Hum Genet 37 1985 650 667
73. L. Stadtmauer O.M. Rosen Increasing the cAMP content of IM-9 cells alters the phosphorylation state and protein kinase activity of the insulin receptor J Biol Chem 261 1986 3402 3407
74. E. Steinberger L.J. Rodriguez-Rigau E.R. Weidman Glucocorticoid therapy in hyperandrogenism Ballieres Clin Obstet Gynaecol 1990
75. D.M. Stocco B.J. Clark Regulation of the acute production of steroids in steroidogenic cells Endocr Rev 17 1996 221 244
76. D.M. Styne G.E. Richards J.J. Bell Growth patterns in congenital adrenal hyperplasia: Correlation of glucocorticoid therapy with stature P.A. Lee L.P. Plotnick A.A. Kowarski Congenital Adrenal Hyperplasia 1977 University Park Press Baltimore 247 261
77. T. Sugawara J.A. Holt D. Driscoll Human steroidogenic acute regulatory protein (StAR): Functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and an expressed pseudogene to chromosome 13 Proc Natl Acad Sci USA 92 1995 4778 4782
78. S. Takayama M.F. White C.R. Kahn Phorbol ester-induced serine phosphorylation of the insulin receptor decreases its tyrosine kinase activity J Biol Chem 263 1988 3440 3447
79. M.K. Tee D. Lin T. Sugawara T → A transversion 11 bp from a splice acceptor site in the gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia Hum Mol Genet 4 1995 2299 2305
80. Y. Tremblay G.E. Ringler Y. Morel Regulation of the gene for estrogenic 17-ketosteroid reductase lying on chromosome 17cen → q25 J Biol Chem 264 1989 20458 20462
81. J.B. Tyrell J.D. Baxter Glucocorticoid therapy P. Felig J.D. Baxter A.E. Broadus Endocrinology and Metabolism ed 2. 1987 McGraw-Hill New York 788
82. J.J. Van Wyk D.F. Gunther E.M. Ritze´n The use of adrenalectomy as a treatment for congenital adrenal hyperplasia J Clin Endocrinol Metab 81 1996 3180 3189
83. R. Voutilainen J. Tapanainen B. Chung Hormonal regulation of P450scc (20,22-desmolase) and P450c17 (17α-hydroxylase/17,20-lyase) in cultured human granulosa cells J Clin Endocrinol Metab 63 1986 202 207
84. T. Yanase M.R. Waterman M. Zachmann Molecular basis of apparent isolated 17,20-lyase deficiency: Compound heterozygous mutations in the C-terminal region (Arg(496) → Cys, Gln(461) → Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency Biochem Biophys Acta 1139 1992 275 279
85. S.S.C. Yen Chronic anovulation caused by peripheral endocrine disorders S.C.C. Yen R.B. Jaffe Reproductive Endocrinology 1986 WB Saunders Philadelphia 441 499
86. L. Zhang H. Rodriguez S. Ohno Serine phosphorylation of human P450c17 increases 17,20 lyase activity: Implications for adrenarche and for the polycystic ovary syndrome Proc Natl Acad Sci USA 92 1995 10619 10623