메뉴 건너뛰기




Volumn 87, Issue 12, 2002, Pages 5476-5484

Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene

Author keywords

[No Author keywords available]

Indexed keywords

AROMATASE; COMPLEMENTARY DNA; ESTRADIOL; GENOMIC DNA; MESSENGER RNA;

EID: 0036925191     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-020498     Document Type: Article
Times cited : (204)

References (49)
  • 2
    • 0030635820 scopus 로고    scopus 로고
    • Cytochromes P450 11: Expression of the CYP19 (aromatase) gene: An unusual case of alternative promoter usage
    • Simpson ER, Michael MD, Agarwal VR, Hinshelwood MM, Bulun SE, Zhao Y 1997 Cytochromes P450 11: Expression of the CYP19 (aromatase) gene: An unusual case of alternative promoter usage. FASEB J 11:29-36
    • (1997) FASEB J , vol.11 , pp. 29-36
    • Simpson, E.R.1    Michael, M.D.2    Agarwal, V.R.3    Hinshelwood, M.M.4    Bulun, S.E.5    Zhao, Y.6
  • 4
    • 0034969192 scopus 로고    scopus 로고
    • Estrogen receptor- and aromatase-deficient mice provide insight into the roles of estrogen within the ovary and uterus
    • Rosenfeld CS, Roberts RM, Lubahn DB 2001 Estrogen receptor- and aromatase-deficient mice provide insight into the roles of estrogen within the ovary and uterus. Mol Reprod Dev 59:336-346
    • (2001) Mol Reprod Dev , vol.59 , pp. 336-346
    • Rosenfeld, C.S.1    Roberts, R.M.2    Lubahn, D.B.3
  • 5
    • 0028625491 scopus 로고
    • Insights from the study of animals lacking functional estrogen receptor
    • Korach KS 1994 Insights from the study of animals lacking functional estrogen receptor. Science 266:1524-1527
    • (1994) Science , vol.266 , pp. 1524-1527
    • Korach, K.S.1
  • 6
    • 0032572929 scopus 로고    scopus 로고
    • Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency
    • Bilezikian JP, Morishima A, Bell J, Grumbach MM 1998 Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency. N Engl J Med 339:599-603
    • (1998) N Engl J Med , vol.339 , pp. 599-603
    • Bilezikian, J.P.1    Morishima, A.2    Bell, J.3    Grumbach, M.M.4
  • 8
    • 0028792229 scopus 로고
    • Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens
    • Morishima A, Grumbach MM, Simpson ER, Fisher C, Qin K 1995 Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J Clin Endocrinol Metab 80:3689-3698
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 3689-3698
    • Morishima, A.1    Grumbach, M.M.2    Simpson, E.R.3    Fisher, C.4    Qin, K.5
  • 9
    • 0034457013 scopus 로고    scopus 로고
    • Estrogen replacement therapy in a man with congenital aromatase deficiency: Effects of different doses of transdermal estradiol on bone mineral density and hormonal parameters
    • Rochira V, Faustini-Fustini M, Balestrieri A, Carani C 2000 Estrogen replacement therapy in a man with congenital aromatase deficiency: Effects of different doses of transdermal estradiol on bone mineral density and hormonal parameters. J Clin Endocrinol Metab 85:1841-1845
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1841-1845
    • Rochira, V.1    Faustini-Fustini, M.2    Balestrieri, A.3    Carani, C.4
  • 10
    • 0033795536 scopus 로고    scopus 로고
    • The effect of short-term treatment with micronized estradiol on bone turnover and gonadotrophins in older men
    • Taxel P, Kennedy D, Fall P, Willard A, Shoukri K, Clive J, Raisz LG 2000 The effect of short-term treatment with micronized estradiol on bone turnover and gonadotrophins in older men. Endocr Res 26:381-398
    • (2000) Endocr Res , vol.26 , pp. 381-398
    • Taxel, P.1    Kennedy, D.2    Fall, P.3    Willard, A.4    Shoukri, K.5    Clive, J.6    Raisz, L.G.7
  • 11
    • 0033305733 scopus 로고    scopus 로고
    • Estrogen: Consequences and implications of human mutations in synthesis and action
    • Grumbach MM, Auchus RJ 1999 Estrogen: Consequences and implications of human mutations in synthesis and action. J Clin Endocrinol Metab 84:4677-4694
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4677-4694
    • Grumbach, M.M.1    Auchus, R.J.2
  • 12
    • 0034504525 scopus 로고    scopus 로고
    • Estrogen, bone, growth and sex: A sea change in conventional wisdom
    • Grumbach MM 2000 Estrogen, bone, growth and sex: A sea change in conventional wisdom. J Pediatr Endocrinol Metab 13:1439-1455
    • (2000) J Pediatr Endocrinol Metab , vol.13 , pp. 1439-1455
    • Grumbach, M.M.1
  • 13
    • 0035912918 scopus 로고    scopus 로고
    • Role of estrogen on bone in the human male: Insights from the natural models of congenital estrogen deficiency
    • Rochira V, Balestrieri A, Faustini-Fustini M, Carani C 2001 Role of estrogen on bone in the human male: Insights from the natural models of congenital estrogen deficiency. Mol Cell Endocrinol 178:215-220
    • (2001) Mol Cell Endocrinol , vol.178 , pp. 215-220
    • Rochira, V.1    Balestrieri, A.2    Faustini-Fustini, M.3    Carani, C.4
  • 15
    • 0031154045 scopus 로고    scopus 로고
    • Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: Impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood
    • Mullis PE, Yoshimura N, Kuhlmann B, Lippuner K, Jaeger P, Harada H 1997 Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the P450arom gene: Impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood. J Clin Endocrinol Metab 82:1739-1745
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 1739-1745
    • Mullis, P.E.1    Yoshimura, N.2    Kuhlmann, B.3    Lippuner, K.4    Jaeger, P.5    Harada, H.6
  • 16
    • 0024853552 scopus 로고
    • Structural analysis of the gene encoding human aromatase cytochrome P-450, the enzyme responsible for estrogen biosynthesis
    • Means GD, Mahendroo MS, Corbin CJ, Mathis JM, Powell FE, Mendelson CR, Simpson ER 1989 Structural analysis of the gene encoding human aromatase cytochrome P-450, the enzyme responsible for estrogen biosynthesis. J Biol Chem 264:19385-19391
    • (1989) J Biol Chem , vol.264 , pp. 19385-19391
    • Means, G.D.1    Mahendroo, M.S.2    Corbin, C.J.3    Mathis, J.M.4    Powell, F.E.5    Mendelson, C.R.6    Simpson, E.R.7
  • 17
    • 0026497319 scopus 로고
    • Ontogeny of aromatase messenger ribonucleic acid in mouse brain: Fluorometrical quantitation by polymerase chain reaction
    • Harada N, Yamada K 1992 Ontogeny of aromatase messenger ribonucleic acid in mouse brain: Fluorometrical quantitation by polymerase chain reaction. Endocrinology 131:2306-2312
    • (1992) Endocrinology , vol.131 , pp. 2306-2312
    • Harada, N.1    Yamada, K.2
  • 18
    • 0034485313 scopus 로고    scopus 로고
    • Insulin sensitivity and its measurement: Structural commonalities among the methods
    • Radziuk J 2000 Insulin sensitivity and its measurement: Structural commonalities among the methods. J Clin Endocrinol Metab 85:4426-4433
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 4426-4433
    • Radziuk, J.1
  • 19
    • 0021813187 scopus 로고
    • Homeostasis model assessment: Insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man
    • Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF, Turner RC 1985 Homeostasis model assessment: Insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 28:412-419
    • (1985) Diabetologia , vol.28 , pp. 412-419
    • Matthews, D.R.1    Hosker, J.P.2    Rudenski, A.S.3    Naylor, B.A.4    Treacher, D.F.5    Turner, R.C.6
  • 20
    • 0030994947 scopus 로고    scopus 로고
    • The homeostasis model in the San Antonio Heart Study
    • Haffner SM, Miettinen H, Stern MP 1997 The homeostasis model in the San Antonio Heart Study. Diabetes Care 20:1087-1092
    • (1997) Diabetes Care , vol.20 , pp. 1087-1092
    • Haffner, S.M.1    Miettinen, H.2    Stern, M.P.3
  • 21
    • 0027255763 scopus 로고
    • Genetic analysis of human placental aromatase deficiency
    • Harada N 1993 Genetic analysis of human placental aromatase deficiency. J Steroid Biochem Mol Biol 44:331-340
    • (1993) J Steroid Biochem Mol Biol , vol.44 , pp. 331-340
    • Harada, N.1
  • 22
    • 0027133452 scopus 로고
    • Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries
    • Ito Y, Fisher CR, Conte FA, Grumbach MM, Simpson ER 1993 Molecular basis of aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc Natl Acad Sci USA 90:11673-11677
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 11673-11677
    • Ito, Y.1    Fisher, C.R.2    Conte, F.A.3    Grumbach, M.M.4    Simpson, E.R.5
  • 23
    • 0028298216 scopus 로고
    • A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom)
    • Conte FA, Grumbach MM, Ito Y, Fisher CR, Simpson ER 1994 A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endocrinol Metab 78:1287-1292
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 1287-1292
    • Conte, F.A.1    Grumbach, M.M.2    Ito, Y.3    Fisher, C.R.4    Simpson, E.R.5
  • 24
    • 0026785124 scopus 로고
    • Genetic studies to characterize the origin of the mutation in placental aromatase deficiency
    • Harada N, Ogawa H, Shozu M, Yamada K 1992 Genetic studies to characterize the origin of the mutation in placental aromatase deficiency. Am J Hum Genet 51:666-672
    • (1992) Am J Hum Genet , vol.51 , pp. 666-672
    • Harada, N.1    Ogawa, H.2    Shozu, M.3    Yamada, K.4
  • 25
    • 0025991345 scopus 로고
    • Sex steroid control of gonadotropin secretion in the human male. I. Effects of testosterone administration in normal and gonadotropin-releasing hormone-deficient men
    • Finkelstein JS, Whitcomb RW, O'Dea LS, Longcope C, Schoenfeld DA, Crowley Jr WF 1991 Sex steroid control of gonadotropin secretion in the human male. I. Effects of testosterone administration in normal and gonadotropin-releasing hormone-deficient men. J Clin Endocrinol Metab 73:609-620
    • (1991) J Clin Endocrinol Metab , vol.73 , pp. 609-620
    • Finkelstein, J.S.1    Whitcomb, R.W.2    O'Dea, L.S.3    Longcope, C.4    Schoenfeld, D.A.5    Crowley W.F., Jr.6
  • 26
    • 0033326235 scopus 로고    scopus 로고
    • Aromatase deficiency caused by a novel P450arom gene mutation: Impact of absent estrogen production on serum gonadotropin concentration in a boy
    • Deladoey J, Fluck C, Bex M, Yoshimura N, Harada N, Mullis PE 1999 Aromatase deficiency caused by a novel P450arom gene mutation: Impact of absent estrogen production on serum gonadotropin concentration in a boy. J Clin Endocrinol Metab 84:4050-4054
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4050-4054
    • Deladoey, J.1    Fluck, C.2    Bex, M.3    Yoshimura, N.4    Harada, N.5    Mullis, P.E.6
  • 27
    • 0021259167 scopus 로고
    • Rote of endogenous opiates in the expression of negative feedback actions of androgen and estrogen on putsatile properties of luteinizing hormone secretion in man
    • Veldhuis JD, Rogol AD, Samojlik E, Ertel NH 1984 Rote of endogenous opiates in the expression of negative feedback actions of androgen and estrogen on putsatile properties of luteinizing hormone secretion in man. J Clin Invest 74:47-55
    • (1984) J Clin Invest , vol.74 , pp. 47-55
    • Veldhuis, J.D.1    Rogol, A.D.2    Samojlik, E.3    Ertel, N.H.4
  • 28
    • 0029116320 scopus 로고
    • Neuroendocrine mechanisms of lactational infertility in women
    • Diaz S, Seron-Ferre M, Croxatto HB, Veldhuis J 1995 Neuroendocrine mechanisms of lactational infertility in women. Biol Res 28:155-163
    • (1995) Biol Res , vol.28 , pp. 155-163
    • Diaz, S.1    Seron-Ferre, M.2    Croxatto, H.B.3    Veldhuis, J.4
  • 29
    • 0023102423 scopus 로고
    • Sex steroids and pulsatile luteinizing hormone release in men. Studies in estrogen-treated agonadal subjects and eugonadal subjects treated with a novel nonsteroidal antiandrogen
    • Gooren L, Spinder T, Spijkstra JJ, van Kessel H, Smals A, Rao BR, Hoogslag M 1987 Sex steroids and pulsatile luteinizing hormone release in men. Studies in estrogen-treated agonadal subjects and eugonadal subjects treated with a novel nonsteroidal antiandrogen. J Clin Endocrinol Metab 64:763-770
    • (1987) J Clin Endocrinol Metab , vol.64 , pp. 763-770
    • Gooren, L.1    Spinder, T.2    Spijkstra, J.J.3    Van Kessel, H.4    Smals, A.5    Rao, B.R.6    Hoogslag, M.7
  • 30
    • 0036078456 scopus 로고    scopus 로고
    • Pituitary function in a man with congenital aromatase deficiency: Effect of different doses of transdermal E2 on basal and stimulated pituitary hormones
    • Rochira V, Balestrieri A, Faustini-Fustini M, Borgato S, Beck-Peccoz P, Carani C 2002 Pituitary function in a man with congenital aromatase deficiency: Effect of different doses of transdermal E2 on basal and stimulated pituitary hormones. J Clin Endocrinol Metab 87:2857-2862
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 2857-2862
    • Rochira, V.1    Balestrieri, A.2    Faustini-Fustini, M.3    Borgato, S.4    Beck-Peccoz, P.5    Carani, C.6
  • 31
    • 0023483146 scopus 로고
    • Estradiol modulates the pulsatile secretion of biologically active luteinizing hormone in man
    • Veldhuis JD, Dufau ML 1987 Estradiol modulates the pulsatile secretion of biologically active luteinizing hormone in man. J Clin Invest 80:631-638
    • (1987) J Clin Invest , vol.80 , pp. 631-638
    • Veldhuis, J.D.1    Dufau, M.L.2
  • 32
    • 0023772665 scopus 로고
    • Effects of opiate receptor blockade on gonadotrophin secretion before and after administration of the oestrogen receptor blocker tamoxifen in eugonadal men
    • Spijkstra JJ, Spinder T, Gooren LJ, Van Kessel H 1988 Effects of opiate receptor blockade on gonadotrophin secretion before and after administration of the oestrogen receptor blocker tamoxifen in eugonadal men. Clin Endocrinol (Oxf) 29:179-188
    • (1988) Clin Endocrinol (Oxf) , vol.29 , pp. 179-188
    • Spijkstra, J.J.1    Spinder, T.2    Gooren, L.J.3    Van Kessel, H.4
  • 34
    • 0034263781 scopus 로고    scopus 로고
    • Estrogen deficiency in men is a challenge for both the hypothalamus and pituitary
    • Vanderschueren D, Bouillon R 2000 Estrogen deficiency in men is a challenge for both the hypothalamus and pituitary. J Clin Endocrinol Metab 85:3024-3026
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 3024-3026
    • Vanderschueren, D.1    Bouillon, R.2
  • 38
    • 0032566933 scopus 로고    scopus 로고
    • Genetic mutations resulting in estrogen insufficiency in the male
    • Simpson ER 1998 Genetic mutations resulting in estrogen insufficiency in the male. Mol Cell Endocrinol 145:55-59
    • (1998) Mol Cell Endocrinol , vol.145 , pp. 55-59
    • Simpson, E.R.1
  • 39
    • 0032499704 scopus 로고    scopus 로고
    • Characterization of mice deficient in aromatase (ArKO) because of targeted disruption of the cyp19 gene
    • Fisher CR, Graves KH, Parlow AF, Simpson ER 1998 Characterization of mice deficient in aromatase (ArKO) because of targeted disruption of the cyp19 gene. Proc Natl Acad Sci USA 95:6965-6970
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 6965-6970
    • Fisher, C.R.1    Graves, K.H.2    Parlow, A.F.3    Simpson, E.R.4
  • 43
    • 0027967086 scopus 로고
    • Serum testosterone level is the major determinant of the mate-female differences in serum levels of high-density lipoprotein (HDL) cholesterol and HDL2 cholesterol
    • Asscheman H, Gooren LJ, Megens JA, Nauta J, Kloosterboer HJ, Eikelboom F 1994 Serum testosterone level is the major determinant of the mate-female differences in serum levels of high-density lipoprotein (HDL) cholesterol and HDL2 cholesterol. Metabolism 43:935-939
    • (1994) Metabolism , vol.43 , pp. 935-939
    • Asscheman, H.1    Gooren, L.J.2    Megens, J.A.3    Nauta, J.4    Kloosterboer, H.J.5    Eikelboom, F.6
  • 48
    • 0027089841 scopus 로고
    • Lipid-independent therapeutic properties of transdermal 17β-estradiol on cardiovascular diseases
    • Cagnacci A, Soldani R, Puccini E, Fioretti P, Melis GB 1992 Lipid-independent therapeutic properties of transdermal 17β-estradiol on cardiovascular diseases. Acta Obstet Gynecol Stand 71:639-641
    • (1992) Acta Obstet Gynecol Stand , vol.71 , pp. 639-641
    • Cagnacci, A.1    Soldani, R.2    Puccini, E.3    Fioretti, P.4    Melis, G.B.5
  • 49
    • 0029637982 scopus 로고
    • Advances in hormone replacement therapy
    • Gangar E, Penny J 1995 Advances in hormone replacement therapy. Nurs Stand 9:23-25
    • (1995) Nurs Stand , vol.9 , pp. 23-25
    • Gangar, E.1    Penny, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.