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Volumn 13, Issue 3, 2003, Pages 195-200

Males with 17β-hydroxysteroid dehydrogenase deficiency

Author keywords

[No Author keywords available]

Indexed keywords

TESTOSTERONE; TESTOSTERONE 17BETA DEHYDROGENASE;

EID: 0038266943     PISSN: 10512144     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.ten.0000081674.43801.0b     Document Type: Conference Paper
Times cited : (4)

References (34)
  • 1
    • 0033852685 scopus 로고    scopus 로고
    • Intracrinology: Role of the family of 17β-hydroxysteroid dehydrogenases in human physiology and disease
    • Labrie F, Luu-The V, Lin SX, et al.: Intracrinology: role of the family of 17β-hydroxysteroid dehydrogenases in human physiology and disease. J Mol Endocrinol 2000;25:1-16.
    • (2000) J Mol Endocrinol , vol.25 , pp. 1-16
    • Labrie, F.1    Luu-The, V.2    Lin, S.X.3
  • 2
    • 0032586817 scopus 로고    scopus 로고
    • 17β-hydroxysteroid dehydrogenase (HSD)/17-ketosteroid reductase (KSR) family; nomenclature and main characteristics of the 17HSD/KSR enzymes
    • Peltoketo H, Luu-The V, Simard J, et al.: 17β-hydroxysteroid dehydrogenase (HSD)/17-ketosteroid reductase (KSR) family; nomenclature and main characteristics of the 17HSD/KSR enzymes. J Mol Endocrinol 1999;23:1-11.
    • (1999) J Mol Endocrinol , vol.23 , pp. 1-11
    • Peltoketo, H.1    Luu-The, V.2    Simard, J.3
  • 3
    • 0027930787 scopus 로고
    • Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3
    • Geissler WM, Davis DL, Wu L, et al.: Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3. Nat Genet 1994;7:34-9.
    • (1994) Nat Genet , vol.7 , pp. 34-39
    • Geissler, W.M.1    Davis, D.L.2    Wu, L.3
  • 4
    • 13144277564 scopus 로고    scopus 로고
    • Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency
    • van Grunsven EG, van Berkel E, Ijlst L, et al.: Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. Proc Natl Acad Sci USA 1998;95:2128-33.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 2128-2133
    • Van Grunsven, E.G.1    Van Berkel, E.2    Ijlst, L.3
  • 5
    • 0030784509 scopus 로고    scopus 로고
    • Expression and characterization of recombinant type 2 3 α-hydroxysteroid dehydrogenase (HSD) from human prostate: Demonstration of bifunctional 3-α/17β-HSD activity and cellular distribution
    • published erratum appears in Mol Endocrinol 1999;12:1763
    • Lin HK, Jez JM, Schlegel BP, et al.: Expression and characterization of recombinant type 2 3 α-hydroxysteroid dehydrogenase (HSD) from human prostate: demonstration of bifunctional 3-α / 17β-HSD activity and cellular distribution [published erratum appears in Mol Endocrinol 1999;12:1763]. Mol Endocrinol 1997;11:1971-84.
    • (1997) Mol Endocrinol , vol.11 , pp. 1971-1984
    • Lin, H.K.1    Jez, J.M.2    Schlegel, B.P.3
  • 6
    • 0001429526 scopus 로고    scopus 로고
    • Characteristics of a highly labile human type 5 17β-hydroxysteroid dehydrogenase
    • Dufort I, Rheault P, Huang XF, et al.: Characteristics of a highly labile human type 5 17β-hydroxysteroid dehydrogenase. Endocrinology 1999;140:568-74.
    • (1999) Endocrinology , vol.140 , pp. 568-574
    • Dufort, I.1    Rheault, P.2    Huang, X.F.3
  • 7
    • 0032914659 scopus 로고    scopus 로고
    • Localization of type 5 17β-hydroxysteroid dehydrogenase, 3β-hydroxysteroid dehydrogenase, and androgen receptor in the human prostate by in situ hybridization and immunocytochemistry
    • El-Alfy M, Lu-The V, Huang XF, et al.: Localization of type 5 17β-hydroxysteroid dehydrogenase, 3β-hydroxysteroid dehydrogenase, and androgen receptor in the human prostate by in situ hybridization and immunocytochemistry. Endocrinology 1999;140:1481-91.
    • (1999) Endocrinology , vol.140 , pp. 1481-1491
    • El-Alfy, M.1    Lu-The, V.2    Huang, X.F.3
  • 8
    • 0030991226 scopus 로고    scopus 로고
    • Expression cloning and characterization of oxidative 17β-and 3α-hydroxysteroid dehydrogenase from rat and human prostate
    • Biswas MG: Expression cloning and characterization of oxidative 17β-and 3α-hydroxysteroid dehydrogenase from rat and human prostate. J Biol Chem 1997:15959-66.
    • (1997) J Biol Chem , pp. 15959-15966
    • Biswas, M.G.1
  • 9
    • 0032727093 scopus 로고    scopus 로고
    • Determination of cDNA, gene structure and chromosomal localization of the novel human 17β-hydroxysteroid dehydrogenase type 7(1)
    • Krazeisen A, Breitling R, Imai K, et al.: Determination of cDNA, gene structure and chromosomal localization of the novel human 17β-hydroxysteroid dehydrogenase type 7(1). FEBS Lett 1999;460: 373-9.
    • (1999) FEBS Lett , vol.460 , pp. 373-379
    • Krazeisen, A.1    Breitling, R.2    Imai, K.3
  • 10
    • 0032575502 scopus 로고    scopus 로고
    • Characterization of Ke 6, a new 17β-hydroxysteroid dehydrogenase, and its expression in gonadal tissues
    • Fomitcheva J, Baker ME, Anderson E, et al.: Characterization of Ke 6, a new 17β-hydroxysteroid dehydrogenase, and its expression in gonadal tissues. J Biol Chem 1998;273:22664-71.
    • (1998) J Biol Chem , vol.273 , pp. 22664-22671
    • Fomitcheva, J.1    Baker, M.E.2    Anderson, E.3
  • 11
    • 0000756222 scopus 로고
    • Diagnosis and treatment of disorders of sexual development
    • Degroot LJ, ed. Montreal: WB Saunders
    • Forest MG: Diagnosis and treatment of disorders of sexual development. In Degroot LJ, ed. Endocrinology. Montreal: WB Saunders; 1995:1901-37.
    • (1995) Endocrinology , pp. 1901-1937
    • Forest, M.G.1
  • 12
    • 84912422791 scopus 로고
    • Familial male pseudohermaphroditism (MPH) due to 17-ketosteroid reductase defect: In vitro study and testicular incubation
    • Amsterdam
    • Peretti D, Saez J, Bertrand J: Familial male pseudohermaphroditism (MPH) due to 17-ketosteroid reductase defect: in vitro study and testicular incubation. Excerpta Medica International Congress Series no 210. 1970. Amsterdam.
    • (1970) Excerpta Medica International Congress Series No 210
    • Peretti, D.1    Saez, J.2    Bertrand, J.3
  • 13
    • 0015058574 scopus 로고
    • Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo
    • Saez JM, et al.: Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo. J Clin Endocrinol Metab 1971;32:604-10.
    • (1971) J Clin Endocrinol Metab , vol.32 , pp. 604-610
    • Saez, J.M.1
  • 14
    • 0015308633 scopus 로고
    • Further in vivo studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect (compared to a case of testicular feminization)
    • Saez JM, Frederich A, Bertrand J: Further in vivo studies in male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect (compared to a case of testicular feminization). J Clin Endocrinol Metab 1972;34:598-600.
    • (1972) J Clin Endocrinol Metab , vol.34 , pp. 598-600
    • Saez, J.M.1    Frederich, A.2    Bertrand, J.3
  • 15
    • 0002948430 scopus 로고    scopus 로고
    • Disorders of sex differentitiation
    • Wilson JD, ed. Philadelphia, PA: W.B. Saunders
    • Grumbach M, Conte F: Disorders of sex differentitiation. In Wilson JD, ed. Williams Texbook of Endocrinology. Philadelphia, PA: W.B. Saunders, 1999:1303-425.
    • (1999) Williams Texbook of Endocrinology , pp. 1303-1425
    • Grumbach, M.1    Conte, F.2
  • 16
    • 0037825781 scopus 로고    scopus 로고
    • Molecular genetics of 17β-hydroxysteroid dehydrogenase deficiency
    • Mason I, ed. New York, NY: Harwood Academic Publishers
    • Simard J: Molecular genetics of 17β-hydroxysteroid dehydrogenase deficiency. In Mason I, ed. Genetics of Steroid Biosynthesis and Function, Modern Genetics. New York, NY: Harwood Academic Publishers; 2001.
    • (2001) Genetics of Steroid Biosynthesis and Function, Modern Genetics
    • Simard, J.1
  • 17
    • 0344819243 scopus 로고    scopus 로고
    • Molecular genetics and pathophysiology of 17β-hydroxysteroid dehydrogenase 3 deficiency
    • Andersson S, Geissler WM, Wu L, et al.: Molecular genetics and pathophysiology of 17β-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab 1996;81:130-6.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 130-136
    • Andersson, S.1    Geissler, W.M.2    Wu, L.3
  • 18
    • 0026744928 scopus 로고
    • Mechanisms of androgen production in male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency
    • Rosler A, Belanger A, Labrie F: Mechanisms of androgen production in male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab 1992;75:773-8.
    • (1992) J Clin Endocrinol Metab , vol.75 , pp. 773-778
    • Rosler, A.1    Belanger, A.2    Labrie, F.3
  • 19
    • 0023146457 scopus 로고
    • Incomplete masculinization due to a deficiency of 17β-hydroxysteroid dehydrogenase: Comparison of prepubertal and peripubertal siblings
    • Wilson SC, Hodgins MB, Scott JS: Incomplete masculinization due to a deficiency of 17β-hydroxysteroid dehydrogenase: comparison of prepubertal and peripubertal siblings. Clin Endocrinol (Oxf) 1987; 26:459-69.
    • (1987) Clin Endocrinol (Oxf) , vol.26 , pp. 459-469
    • Wilson, S.C.1    Hodgins, M.B.2    Scott, J.S.3
  • 20
    • 0023277586 scopus 로고
    • Hirsutism, polycystic ovarian disease, and ovarian 17-ketosteroid reductase deficiency
    • Pang SY, Softness B, Sweeney WJ, et al.: Hirsutism, polycystic ovarian disease, and ovarian 17-ketosteroid reductase deficiency. N Engl J Med 1987;316:1295-301.
    • (1987) N Engl J Med , vol.316 , pp. 1295-1301
    • Pang, S.Y.1    Softness, B.2    Sweeney, W.J.3
  • 21
    • 0025050717 scopus 로고
    • Ovarian 17-ketosteroid reductase deficiency as a possible cause of polycystic ovarian disease
    • Toscano V, Balducci R, Bianchi P, et al.: Ovarian 17-ketosteroid reductase deficiency as a possible cause of polycystic ovarian disease. J Clin Endocrinol Metab 1990;71:288-92.
    • (1990) J Clin Endocrinol Metab , vol.71 , pp. 288-292
    • Toscano, V.1    Balducci, R.2    Bianchi, P.3
  • 22
    • 0029940067 scopus 로고    scopus 로고
    • A (R80Q) mutation in 17β-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females
    • Rosler A, Silverstein S, Abeliovich D: A (R80Q) mutation in 17β-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. J Clin Endocrinol Metab 1996;81:1827-31.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 1827-1831
    • Rosler, A.1    Silverstein, S.2    Abeliovich, D.3
  • 24
    • 0029846162 scopus 로고    scopus 로고
    • Human ovarian expression of 17β-hydroxysteroid dehydrogenase types 1, 2 and 3
    • Zhang Y, Word RA, Fesmire S, et al.: Human ovarian expression of 17β-hydroxysteroid dehydrogenase types 1, 2 and 3. J Clin Endocrinol 1996;81:3594-8.
    • (1996) J Clin Endocrinol , vol.81 , pp. 3594-3598
    • Zhang, Y.1    Word, R.A.2    Fesmire, S.3
  • 25
    • 0035931117 scopus 로고    scopus 로고
    • Type 5 17β-hydroxysteroid dehydrogenase: Its role in the formation of androgens in women
    • Luu-The V, Dufort I, Pelletier G: Type 5 17β-hydroxysteroid dehydrogenase: its role in the formation of androgens in women. Mol Cell Endocrinol 2001;171:77-82.
    • (2001) Mol Cell Endocrinol , vol.171 , pp. 77-82
    • Luu-The, V.1    Dufort, I.2    Pelletier, G.3
  • 26
    • 0036136829 scopus 로고    scopus 로고
    • Etiological diagnosis of male sex ambiguity: A collaborative study
    • Morel Y, et al.: Etiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr 2001;161:49-59.
    • (2001) Eur J Pediatr , vol.161 , pp. 49-59
    • Morel, Y.1
  • 27
    • 0033233294 scopus 로고    scopus 로고
    • 17β-hydroxysteroid dehydrogenase-3 deficiency: Diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
    • Boehmer AL, Brinkmann AO, Sandkuijl LA, et al.: 17β-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. J Clin Endocrinol Metab 1999;84:4713-21.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4713-4721
    • Boehmer, A.L.1    Brinkmann, A.O.2    Sandkuijl, L.A.3
  • 28
    • 0031757587 scopus 로고    scopus 로고
    • Deleterious missense mutations and silent polymorphism in the human 17β-hydroxysteroid dehydrogenase 3 gene (HSD17B3)
    • Moghrabi N, Zeitoun K, Takayama K, et al: Deleterious missense mutations and silent polymorphism in the human 17β-hydroxysteroid dehydrogenase 3 gene (HSD17B3). J Clin Endocrinol Metab 1998;83:2855-60.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 2855-2860
    • Moghrabi, N.1    Zeitoun, K.2    Takayama, K.3
  • 29
    • 0031704428 scopus 로고    scopus 로고
    • A novel missense (R80W) mutation in 17β-ydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism
    • Bilbao JR, Loridan L, Audi L, et al: A novel missense (R80W) mutation in 17β-ydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. Eur J Endocrinol 1998;139:330-3.
    • (1998) Eur J Endocrinol , vol.139 , pp. 330-333
    • Bilbao, J.R.1    Loridan, L.2    Audi, L.3
  • 30
    • 0025378353 scopus 로고
    • Difficulties in the diagnosis of 17β-hydroxysteroid dehydrogenase deficiency. Mimicking the androgen insensitivity syndrome (AIS) in early infancy
    • David M, Forrest MG, Mollard P, et al.: Difficulties in the diagnosis of 17β-hydroxysteroid dehydrogenase deficiency. Mimicking the androgen insensitivity syndrome (AIS) in early infancy. Arch French Pediatr 1990;47:107-13.
    • (1990) Arch French Pediatr , vol.47 , pp. 107-113
    • David, M.1    Forrest, M.G.2    Mollard, P.3
  • 31
    • 0008237031 scopus 로고    scopus 로고
    • Le deficit en 17-ceto-reductase est bien du a des mutations du gene 17β-Hydroxysteroide deshydrogenase type 3: Etude de 8 familles
    • Calemard-Michel L, et al.: Le deficit en 17-ceto-reductase est bien du a des mutations du gene 17β-Hydroxysteroide deshydrogenase type 3: Etude de 8 familles. Ann Endocrinol 1996;57:357.
    • (1996) Ann Endocrinol , vol.57 , pp. 357
    • Calemard-Michel, L.1
  • 32
    • 0038163575 scopus 로고    scopus 로고
    • Pitfalls in early diagnosis of 17β-hydroxysteroid dehydrogenase deficiency: Clinical, histological and molecular studies
    • Calemard-Michel L, et al.: Pitfalls in early diagnosis of 17β-hydroxysteroid dehydrogenase deficiency: clinical, histological and molecular studies. Hormone Res 1996;46(suppl 2):93.
    • (1996) Hormone Res , vol.46 , Issue.SUPPL. 2 , pp. 93
    • Calemard-Michel, L.1
  • 33
    • 0020791429 scopus 로고
    • Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: Studies on the natural history of the defect and effect of androgens on gender role
    • Rosler A, Kohn G: Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase deficiency: studies on the natural history of the defect and effect of androgens on gender role. J Steroid Biochem 1983;19:663-74.
    • (1983) J Steroid Biochem , vol.19 , pp. 663-674
    • Rosler, A.1    Kohn, G.2


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