메뉴 건너뛰기




Volumn 109, Issue 3-5, 2008, Pages 212-218

Human models of aromatase deficiency

Author keywords

Aromatase gene; Bone maturation; Bone mineral density; Estradiol testosterone ratio; Estrogens deficiency

Indexed keywords

AROMATASE; ESTRADIOL;

EID: 44149093534     PISSN: 09600760     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jsbmb.2008.03.026     Document Type: Article
Times cited : (83)

References (55)
  • 1
    • 33644638521 scopus 로고    scopus 로고
    • Estrogen receptors and human disease
    • Deroo B.J., and Korach K.S. Estrogen receptors and human disease. J. Clin. Invest. 116 (2006) 561-570
    • (2006) J. Clin. Invest. , vol.116 , pp. 561-570
    • Deroo, B.J.1    Korach, K.S.2
  • 7
    • 0032813510 scopus 로고    scopus 로고
    • Oestrogen receptors-an overview
    • Enmark E., and Gustafsson J.A. Oestrogen receptors-an overview. J. Internal Med. 246 (1999) 133-138
    • (1999) J. Internal Med. , vol.246 , pp. 133-138
    • Enmark, E.1    Gustafsson, J.A.2
  • 8
    • 0033230631 scopus 로고    scopus 로고
    • Cellular functions of the plasma membrane estrogen receptor
    • Levin E.R. Cellular functions of the plasma membrane estrogen receptor. Trends Endocrinol. Metab. 10 (1999) 374-377
    • (1999) Trends Endocrinol. Metab. , vol.10 , pp. 374-377
    • Levin, E.R.1
  • 10
    • 0033305438 scopus 로고    scopus 로고
    • Estrogen receptor null mice: what have we learned and where will they lead us?
    • Couse J.F., and Korach K.S. Estrogen receptor null mice: what have we learned and where will they lead us?. Endocrine Rev. 20 (1999) 358-417
    • (1999) Endocrine Rev. , vol.20 , pp. 358-417
    • Couse, J.F.1    Korach, K.S.2
  • 12
    • 0025772011 scopus 로고
    • A new cause of female pseudohermaphroditism: placental aromatase deficiency
    • Shozu M., Akasofu K., Harada T., and Kubota Y. A new cause of female pseudohermaphroditism: placental aromatase deficiency. J. Clin. Endocrinol. Metab. 72 3 (1991) 560-566
    • (1991) J. Clin. Endocrinol. Metab. , vol.72 , Issue.3 , pp. 560-566
    • Shozu, M.1    Akasofu, K.2    Harada, T.3    Kubota, Y.4
  • 13
    • 0026785124 scopus 로고
    • Genetic studies to characterize the origin of the mutation in placental aromatase deficiency
    • Harada N., Ogawa H., Shozu M., and Yamada K. Genetic studies to characterize the origin of the mutation in placental aromatase deficiency. Am. J. Hum. Genet. 51 (1992) 666-672
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 666-672
    • Harada, N.1    Ogawa, H.2    Shozu, M.3    Yamada, K.4
  • 14
    • 0028298216 scopus 로고
    • A syndrome of female pseudohermaphroditism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom)
    • Conte F.A., Grumbach M.M., Ito Y., Fisher C.R., and Simpson E.R. A syndrome of female pseudohermaphroditism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J. Clin. Endocrinol. Metab. 78 (1994) 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
  • 15
    • 0027133452 scopus 로고
    • Molecular basis of the aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries
    • Ito Y., Fisher C.R., Conte F.A., Grumbach M.M., and Simpson E.R. Molecular basis of the aromatase deficiency in an adult female with sexual infantilism and polycystic ovaries. Proc. Natl. Acad. Sci. U.S.A. 90 (1993) 11673-11677
    • (1993) Proc. Natl. Acad. Sci. U.S.A. , vol.90 , pp. 11673-11677
    • Ito, Y.1    Fisher, C.R.2    Conte, F.A.3    Grumbach, M.M.4    Simpson, E.R.5
  • 16
    • 0028792229 scopus 로고
    • Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens
    • Morishima A., Grumbach M.M., Simpson E.R., Fisher C., and Qin K. Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens. J. Clin. Endocrinol. Metab. 80 (1995) 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
  • 18
    • 0031154045 scopus 로고    scopus 로고
    • Aromatase deficiency in a female who is compound heterozygote for new point mutations in the P450arom gene: impact of estrogens on hypergonadotropic hypogonadism, multicystic ovaries, and bone densitometry in childhood
    • Mullis P.E., Yoshimura N., Kuhlmann B., Lippuner K., Jaeger P., and Harada H. Aromatase deficiency in a female who is compound heterozygote for 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 (1997) 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
  • 19
    • 0001878449 scopus 로고    scopus 로고
    • Female pseudohermaphroditism resulting from aromatase (P40arom) deficiency associated with a novel mutation R457X) in the CYP19 gene
    • Portrait-Doyen S., Forest M.G., Nicolino M., Morel Y., and Chatelain P.C. Female pseudohermaphroditism resulting from aromatase (P40arom) deficiency associated with a novel mutation R457X) in the CYP19 gene. Horm. Res. 46 Suppl. 2 (1996) 14
    • (1996) Horm. Res. , vol.46 , Issue.SUPPL. 2 , pp. 14
    • Portrait-Doyen, S.1    Forest, M.G.2    Nicolino, M.3    Morel, Y.4    Chatelain, P.C.5
  • 20
    • 0031726118 scopus 로고    scopus 로고
    • Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene
    • Ludwig M., Beck A., Wickert L., Bolkenius U., Tittel B., Hinkel K., and Bidlingmaier F. Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene. J. Pediatr. Endocrinol. Metab. 11 (1998) 657-664
    • (1998) J. Pediatr. Endocrinol. Metab. , vol.11 , pp. 657-664
    • Ludwig, M.1    Beck, A.2    Wickert, L.3    Bolkenius, U.4    Tittel, B.5    Hinkel, K.6    Bidlingmaier, F.7
  • 21
    • 0344442680 scopus 로고    scopus 로고
    • Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterozygote for two new point mutations of the CYP19 gene
    • Belgorosky A., Pepe C., Marino R., Guercio C., Saraco N., Vaiani E., and Rivarola M.A. Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterozygote for two new point mutations of the CYP19 gene. J. Clin. Endocrinol. Metab. 88 (2003) 5127-5131
    • (2003) J. Clin. Endocrinol. Metab. , vol.88 , pp. 5127-5131
    • Belgorosky, A.1    Pepe, C.2    Marino, R.3    Guercio, C.4    Saraco, N.5    Vaiani, E.6    Rivarola, M.A.7
  • 24
    • 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., and Mullis P.E. 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 11 (1999) 4050-4054
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , Issue.11 , pp. 4050-4054
    • Deladoey, J.1    Fluck, C.2    Bex, M.3    Yoshimura, N.4    Harada, N.5    Mullis, P.E.6
  • 27
    • 44149106376 scopus 로고    scopus 로고
    • M. Pura, H. Mittre, S. Carreau, M.L. Kottler, Clinical findings in an adult man with a novel mutation in the aromatase gene. Program of the 85th Annual Meeting of the Endocrine Society, Abstract Book Philadelphia, PA (2003) P-467: 243 (abstract).
    • M. Pura, H. Mittre, S. Carreau, M.L. Kottler, Clinical findings in an adult man with a novel mutation in the aromatase gene. Program of the 85th Annual Meeting of the Endocrine Society, Abstract Book Philadelphia, PA (2003) P-467: 243 (abstract).
  • 30
    • 0037205931 scopus 로고    scopus 로고
    • Congenital estrogen deficiency in men: a new syndrome with different phenotypes; clinical and therapeutic implications in men
    • Rochira V., Balestrieri A., Madeo B., Spaggiari A., and Carani C. Congenital estrogen deficiency in men: a new syndrome with different phenotypes; clinical and therapeutic implications in men. Mol. Cell. Endocrinol. 193 (2002) 19-28
    • (2002) Mol. Cell. Endocrinol. , vol.193 , pp. 19-28
    • Rochira, V.1    Balestrieri, A.2    Madeo, B.3    Spaggiari, A.4    Carani, C.5
  • 32
    • 0033305733 scopus 로고    scopus 로고
    • Estrogen: consequences and implications of human mutations in synthesis and action
    • Grumbach M.M., and Auchus R.J. Estrogen: consequences and implications of human mutations in synthesis and action. J. Clin. Endocrinol. Metab. 84 (1999) 4677-4694
    • (1999) J. Clin. Endocrinol. Metab. , vol.84 , pp. 4677-4694
    • Grumbach, M.M.1    Auchus, R.J.2
  • 33
    • 0035724116 scopus 로고    scopus 로고
    • Clinical implications and management of oestrogen deficiency in the male
    • Balestrieri A., Faustini-Fustini M., Rochira V., and Carani C. Clinical implications and management of oestrogen deficiency in the male. Clin. Endocrinol. 54 4 (2001) 431-432
    • (2001) Clin. Endocrinol. , vol.54 , Issue.4 , pp. 431-432
    • Balestrieri, A.1    Faustini-Fustini, M.2    Rochira, V.3    Carani, C.4
  • 34
    • 0030766189 scopus 로고    scopus 로고
    • The influence of estrogen on growth
    • Lee P.A., and Witchel S.F. The influence of estrogen on growth. Curr. Opin. Pediatr. 9 (1997) 431-436
    • (1997) Curr. Opin. Pediatr. , vol.9 , pp. 431-436
    • Lee, P.A.1    Witchel, S.F.2
  • 35
    • 0029793054 scopus 로고    scopus 로고
    • A longitudinal assessment of hormonal and physical alterations during normal puberty in boys. II. Estrogen levels as determined by an ultrasensitive bioassay
    • Klein K.O., Martha Jr. P.M., Blizzard R.M., Herbst T., and Rogol A.D. A longitudinal assessment of hormonal and physical alterations during normal puberty in boys. II. Estrogen levels as determined by an ultrasensitive bioassay. J. Clin. Endocrinol. Metab. 81 9 (1996) 3203-3207
    • (1996) J. Clin. Endocrinol. Metab. , vol.81 , Issue.9 , pp. 3203-3207
    • Klein, K.O.1    Martha Jr., P.M.2    Blizzard, R.M.3    Herbst, T.4    Rogol, A.D.5
  • 36
    • 0031120087 scopus 로고    scopus 로고
    • The role of estrogen in bone growth and maturation during childhood and adolescence
    • Cutler Jr. G.B. The role of estrogen in bone growth and maturation during childhood and adolescence. J. Steroid Biochem. Mol. Biol. 61 (1997) 141-144
    • (1997) J. Steroid Biochem. Mol. Biol. , vol.61 , pp. 141-144
    • Cutler Jr., G.B.1
  • 37
    • 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., and Carani C. Role of estrogen on bone in the human male: insights from the natural models of congenital estrogen deficiency. Mol. Cell. Endocrinol. 178 1-2 (2001) 215-220
    • (2001) Mol. Cell. Endocrinol. , vol.178 , Issue.1-2 , pp. 215-220
    • Rochira, V.1    Balestrieri, A.2    Faustini-Fustini, M.3    Carani, C.4
  • 38
    • 0032572929 scopus 로고    scopus 로고
    • Increased bone mass as a result of estrogen therapy in a man with AD
    • Bilezikian J.P., Morishima A., Bell J., and Grumbach M.M. Increased bone mass as a result of estrogen therapy in a man with AD. N. Engl. J. Med. 339 (1998) 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
  • 39
    • 0022529328 scopus 로고
    • Pubertal growth in patients with androgen insensitivity: indirect evidence for the importance of estrogens in pubertal growth girls
    • Zachmann M., Prader A., Sabel E.H., Crigler J.F., Ritzen M.R., Atares M., and Ferrandez A.F. Pubertal growth in patients with androgen insensitivity: indirect evidence for the importance of estrogens in pubertal growth girls. J. Pediatr. 108 (1986) 694-697
    • (1986) J. Pediatr. , vol.108 , pp. 694-697
    • Zachmann, M.1    Prader, A.2    Sabel, E.H.3    Crigler, J.F.4    Ritzen, M.R.5    Atares, M.6    Ferrandez, A.F.7
  • 40
  • 41
    • 0031756218 scopus 로고    scopus 로고
    • Relationship of serum sex steroid level and bone turn-over markers with bon mineral density in men and women: a key role for bioavailable estrogen
    • Kohsla S., 3rd Melton L.J., Atkinson E.J., Klee G.G., and Riggs B.L. Relationship of serum sex steroid level and bone turn-over markers with bon mineral density in men and women: a key role for bioavailable estrogen. J. Clin. Endocrinol. Metab. 83 (1998) 2266-2274
    • (1998) J. Clin. Endocrinol. Metab. , vol.83 , pp. 2266-2274
    • Kohsla, S.1    3rd Melton, L.J.2    Atkinson, E.J.3    Klee, G.G.4    Riggs, B.L.5
  • 43
    • 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 J
    • Rochira V., Faustini-Fustini M., Balestrieri A., and Carani C. 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 (2000) 1841-1845
    • (2000) Clin. Endocrinol. Metab. , vol.85 , pp. 1841-1845
    • Rochira, V.1    Faustini-Fustini, M.2    Balestrieri, A.3    Carani, C.4
  • 44
    • 0034751519 scopus 로고    scopus 로고
    • Sexual dimorphism in skeletal size, density, and strength
    • Seeman E. Sexual dimorphism in skeletal size, density, and strength. J. Clin. Endocrinol. Metab. 86 10 (2001) 4576-4584
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , Issue.10 , pp. 4576-4584
    • Seeman, E.1
  • 46
    • 0029911746 scopus 로고    scopus 로고
    • A longitudinal evaluation of bone mineral density in adult men with histories of delayed puberty
    • Finkelstein J.S., Klibanski A., and Neer R.M. A longitudinal evaluation of bone mineral density in adult men with histories of delayed puberty. J. Clin. Endocrinol. Metab. 81 (1996) 1152-1155
    • (1996) J. Clin. Endocrinol. Metab. , vol.81 , pp. 1152-1155
    • Finkelstein, J.S.1    Klibanski, A.2    Neer, R.M.3
  • 48
    • 0037291609 scopus 로고    scopus 로고
    • Progressive development of insulin resistance phenotype in male mice with complete aromatase (CYP19) deficiency
    • Takeda K., Toda K., Saibara T., Nakagawa M., Saika K., Onishi T., Sugiura T., and Shizuta Y. Progressive development of insulin resistance phenotype in male mice with complete aromatase (CYP19) deficiency. J. Endocrinol. 176 (2003) 237-246
    • (2003) J. Endocrinol. , vol.176 , pp. 237-246
    • Takeda, K.1    Toda, K.2    Saibara, T.3    Nakagawa, M.4    Saika, K.5    Onishi, T.6    Sugiura, T.7    Shizuta, Y.8
  • 49
    • 17444420666 scopus 로고    scopus 로고
    • Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency
    • Herrmann B.L., Janssen O.E., Hahn S., Broeker-Preuss M., and Mann K. Effects of estrogen replacement therapy on bone and glucose metabolism in a male with congenital aromatase deficiency. Horm. Met. Res. 37 (2005) 178-183
    • (2005) Horm. Met. Res. , vol.37 , pp. 178-183
    • Herrmann, B.L.1    Janssen, O.E.2    Hahn, S.3    Broeker-Preuss, M.4    Mann, K.5
  • 53
    • 0027967086 scopus 로고
    • Serum testosterone level is the major determinant of the male-female differences in serum levels of high-density lipoprotein (HDL) cholesterol and HDL2 cholesterol
    • Asscheman H., Gooren L.J., Megens J.A., Nauta J., Kloosterboer H.J., and Eikelboom F. Serum testosterone level is the major determinant of the male-female differences in serum levels of high-density lipoprotein (HDL) cholesterol and HDL2 cholesterol. Metabolism 43 (1994) 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
  • 54
    • 0030952581 scopus 로고    scopus 로고
    • Suppression of endogenous testosterone in young men increases serum levels of high density lipoprotein subclass lipoprotein A-I and lipoprotein(a)
    • von Eckardstein A., Kleisch S., Nieschlag E., Chirazi A., Assmann G., and Behre H.M. Suppression of endogenous testosterone in young men increases serum levels of high density lipoprotein subclass lipoprotein A-I and lipoprotein(a). J. Clin. Endocrinol. Metab. 82 (1997) 3367-3372
    • (1997) J. Clin. Endocrinol. Metab. , vol.82 , pp. 3367-3372
    • von Eckardstein, A.1    Kleisch, S.2    Nieschlag, E.3    Chirazi, A.4    Assmann, G.5    Behre, H.M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.