메뉴 건너뛰기




Volumn 7, Issue 3, 2008, Pages 217-229

Androgen insensitivity syndrome: Clinical features and molecular defects

Author keywords

AIS; Ambiguous genitalia; Androgen Receptor Gene; AR; CAIS; Intersex disorders; MAIS; PAIS

Indexed keywords

ANDROGEN RECEPTOR; AR PROTEIN, HUMAN; HORMONE;

EID: 52449110003     PISSN: 11093099     EISSN: None     Source Type: Journal    
DOI: 10.14310/horm.2002.1201     Document Type: Review
Times cited : (117)

References (101)
  • 1
    • 33747640635 scopus 로고
    • The syndrome of testicular feminization in male pseudohermaphrodites
    • Morris JM, 1953 The syndrome of testicular feminization in male pseudohermaphrodites. Am J Obstet Gynecol 65: 1192-1211.
    • (1953) Am J Obstet Gynecol , vol.65 , pp. 1192-1211
    • Morris, J.M.1
  • 2
    • 0014955076 scopus 로고
    • X-linked gene for testicular feminization in mouse
    • Lyon MF, Hawkes SG, 1970 X-linked gene for testicular feminization in mouse. Nature 227: 1217-1219.
    • (1970) Nature , vol.227 , pp. 1217-1219
    • Lyon, M.F.1    Hawkes, S.G.2
  • 3
    • 84984364580 scopus 로고
    • X-linked testicular feminization in the mouse as a non-inducible regulatory mutation of the Jacob-Monod type
    • Ohno S, Lyon MF, 1970 X-linked testicular feminization in the mouse as a non-inducible regulatory mutation of the Jacob-Monod type. Clin Genet 1: 121-127.
    • (1970) Clin Genet , vol.1 , pp. 121-127
    • Ohno, S.1    Lyon, M.F.2
  • 5
    • 0024555077 scopus 로고
    • Androgen receptor locus on the human X chromosome: Regional localization to Xq11-12 and description of a DNA poly morphism
    • Brown CJ, Goss SJ, Lubahn DB, et al, 1989 Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA poly morphism. Am J Hum Genet 44: 264-269.
    • (1989) Am J Hum Genet , vol.44 , pp. 264-269
    • Brown, C.J.1    Goss, S.J.2    Lubahn, D.B.3
  • 6
    • 0342597380 scopus 로고
    • Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: Evidence for further genetic heterogeneity in this syndrome
    • Brown TR, Lubahn DB, Wilson EM, Joseph DR, French FS, Migeon CJ, 1988 Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. Proc Natl Acad Sci USA 85: 8152-8155.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 8152-8155
    • Brown, T.R.1    Lubahn, D.B.2    Wilson, E.M.3    Joseph, D.R.4    French, F.S.5    Migeon, C.J.6
  • 7
    • 0024306555 scopus 로고
    • Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity
    • Lubahn DB, Brown TR, Simantal JA, et al, 1989 Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity. Proc Natl Acad Sci USA 86: 9534-9538.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 9534-9538
    • Lubahn, D.B.1    Brown, T.R.2    Simantal, J.A.3
  • 9
    • 0024848136 scopus 로고
    • The human androgen receptor: Domain structure, genomic organization, and regulation of expression
    • Brinkmann AO, Faber PW, van Rooij HJC, et al, 1989 The human androgen receptor: domain structure, genomic organization, and regulation of expression. J Steroid Biochem 34: 307-310.
    • (1989) J Steroid Biochem , vol.34 , pp. 307-310
    • Brinkmann, A.O.1    Faber, P.W.2    Van Rooij, H.J.C.3
  • 10
    • 0025087011 scopus 로고
    • Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: Premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance
    • Marcelli M, Tilley WD, Wilson CM, Griffin JE, Wilson JD, McPhaul MJ, 1990 Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance. Mol Endocrinol 4: 1105-1116. (Pubitemid 20352008)
    • (1990) Molecular Endocrinology , vol.4 , Issue.8 , pp. 1105-1116
    • Marcelli, M.1    Tilley, W.D.2    Wilson, C.M.3    Griffin, J.E.4    Wilson, J.D.5    McPhaul, M.J.6
  • 11
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH, 1991 Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352: 77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 12
    • 0037242193 scopus 로고    scopus 로고
    • Androgen insensitivity and male infertility
    • Hiort O, Holterhus PM, 2003 Androgen insensitivity and male infertility. Int J Androl 26: 16-20.
    • (2003) Int J Androl , vol.26 , pp. 16-20
    • Hiort, O.1    Holterhus, P.M.2
  • 13
    • 0035919213 scopus 로고    scopus 로고
    • Molecular basis of androgen insensitivity
    • Brinkmann AO, 2001 Molecular basis of androgen insensitivity. Mol Cell Endocrinol 179: 105-109.
    • (2001) Mol Cell Endocrinol , vol.179 , pp. 105-109
    • Brinkmann, A.O.1
  • 14
    • 0033304593 scopus 로고    scopus 로고
    • Male pseudohermaphroditism caused by mutations of the human androgen receptor
    • McPhaul MJ, Griffin JE, 1999 Male pseudohermaphroditism caused by mutations of the human androgen receptor. J Clin Endocrinol Metab 84: 3435-3441. (Pubitemid 30645188)
    • (1999) Journal of Clinical Endocrinology and Metabolism , vol.84 , Issue.10 , pp. 3435-3441
    • McPhaul, M.J.1    Griffin, J.E.2
  • 15
    • 0023913120 scopus 로고
    • The steroid and thyroid hormone receptor superfamily
    • Evans RM, 1988 The steroid and thyroid hormone receptor superfamily. Science 240: 889-895.
    • (1988) Science , vol.240 , pp. 889-895
    • Evans, R.M.1
  • 17
    • 0036669347 scopus 로고    scopus 로고
    • Molecular endocrinology of sex differentiation
    • Warne GL, Kanumakala SH, 2002 Molecular endocrinology of sex differentiation. Semin Reprod Med 20: 169-180.
    • (2002) Semin Reprod Med , vol.20 , pp. 169-180
    • Warne, G.L.1    Kanumakala, S.H.2
  • 21
    • 0025039237 scopus 로고
    • Functional characterizations of the androgen receptor confirm that the molecular basis of androgen action is transcriptional regulation
    • Rundlett SE, Wu X-P, Miesfeld RL, 1990 Functional characterizations of the androgen receptor confirm that the molecular basis of androgen action is transcriptional regulation. Mol Endocrinol 4: 708-714. (Pubitemid 20369380)
    • (1990) Molecular Endocrinology , vol.4 , Issue.5 , pp. 708-714
    • Rundlett, S.E.1    Wu, X.-P.2    Miesfeld, R.L.3
  • 22
    • 0027482359 scopus 로고
    • Dominant negative regulation of trans-activation by the rat androgen receptor: Roles of the N-terminal domain and heterodimer formation
    • DOI 10.1210/me.7.11.1399
    • Palvimo JJ, Kallio PJ, Ikonen T, Mehto M, Janne OA, 1993 Dominant negative regulation of trans-activation by the rat androgen receptor: roles of the N-terminal domain and heterodimer formation. Mol Endocrinol 7: 1399-1407. (Pubitemid 23345015)
    • (1993) Molecular Endocrinology , vol.7 , Issue.11 , pp. 1399-1407
    • Palvimo, J.J.1    Kallio, P.J.2    Ikonen, T.3    Mehto, M.4    Janne, O.A.5
  • 23
    • 0026685062 scopus 로고
    • Anatomy of the steroid receptor zinc finger region
    • Freedman LP, 1992 Anatomy of the steroid receptor zinc finger region. Endocr Rev 13: 129-145.
    • (1992) Endocr Rev , vol.13 , pp. 129-145
    • Freedman, L.P.1
  • 24
    • 0024372108 scopus 로고
    • DNA-binding specificity of steroid receptors
    • Berg J, 1989 DNA-binding specificity of steroid receptors. Cell 57: 1065-1068.
    • (1989) Cell , vol.57 , pp. 1065-1068
    • Berg, J.1
  • 26
    • 0028225858 scopus 로고
    • A ligand-dependent bipartite nuclear targeting signal in the human andogen receptor
    • Zhou Z-X, Sar M, Simental JA, Lane MV, Wilson EM, 1994 A ligand-dependent bipartite nuclear targeting signal in the human andogen receptor. J Biol Chem 269: 13115-13123.
    • (1994) J Biol Chem , vol.269 , pp. 13115-13123
    • Zhou, Z.-X.1    Sar, M.2    Simental, J.A.3    Lane, M.V.4    Wilson, E.M.5
  • 28
    • 0030948745 scopus 로고    scopus 로고
    • Trafficking of the androgen receptor in living cells with fused green fluorescent protein-androgen receptor
    • DOI 10.1016/S0303-7207(97)04034-3, PII S0303720797040343
    • Georget V, Lobaccaro JM, Terouanne B, Mangeat P, Nicolas JC, Sultan C, 1997 Trafficking of the androgen receptor in living cells with fused green fluorescent protein-androgen receptor. Mol Cell Endocrinol 129: 17-29. (Pubitemid 27229213)
    • (1997) Molecular and Cellular Endocrinology , vol.129 , Issue.1 , pp. 17-26
    • Georget, V.1    Lobaccaro, J.M.2    Terouanne, B.3    Mangeat, P.4    Nicolas, J.-C.5    Sultan, C.6
  • 29
    • 3242687261 scopus 로고    scopus 로고
    • Androgens and androgen receptor in prostate and ovarian malignancies
    • Meehan KL, Sadar MD, 2003 Androgens and androgen receptor in prostate and ovarian malignancies. Front Biosci 8: d780-800.
    • (2003) Front Biosci , vol.8
    • Meehan, K.L.1    Sadar, M.D.2
  • 30
    • 0001886823 scopus 로고    scopus 로고
    • Grossman A (ed), Blackwell Science, Oxford
    • Sultan C, Savage MO 1998. In Grossman A (ed), Clinical Endocrinology, Blackwell Science, Oxford; pp, 795-809.
    • (1998) Clinical Endocrinology , pp. 795-809
    • Sultan, C.1    Savage, M.O.2
  • 31
    • 0017811426 scopus 로고
    • Endocrine studies in male pseudohermaphroditism in childhood and adolescence
    • Savage MO, Chaussain JL, Evain D, Roger M, Canlorbe P, Job JC, 1978 Endocrine studies in male pseudohermaphroditism in childhood and adolescence. Clin Endocrinol (Oxf) 8: 219-231. (Pubitemid 8287891)
    • (1978) Clinical Endocrinology , vol.8 , Issue.3 , pp. 219-231
    • Savage, M.O.1    Chaussain, J.L.2    Evain, D.3
  • 32
    • 0036153346 scopus 로고    scopus 로고
    • The genetics of male undermasculinization
    • Ahmed SF, Hughest IA, 2002 The genetics of male undermasculinization. Clin Endocrinol 56: 1-18.
    • (2002) Clin Endocrinol , vol.56 , pp. 1-18
    • Ahmed, S.F.1    Hughest, I.A.2
  • 35
    • 0022257048 scopus 로고
    • Testicular feminization with incomplete Mullerian regression
    • Dodge ST, Finkelstone MS, Miyazawa K, 1985 Testicular feminization with incomplete Mullerian regression. Fertil Sertil 43: 937-938. (Pubitemid 15060037)
    • (1985) Fertility and Sterility , vol.43 , Issue.6 , pp. 937-938
    • Dodge, S.T.1    Finkelston, M.S.2    Miyazawa, K.3
  • 36
    • 0027272803 scopus 로고
    • Complete androgen insensitivity with persistent Mullerian structures. A case report
    • Swanson ML, Coronel EH, 1993 Complete androgen insensitivity with persistent Mullerian structures. A case report. J Reprod Med 38: 565-568.
    • (1993) J Reprod Med , vol.38 , pp. 565-568
    • Swanson, M.L.1    Coronel, E.H.2
  • 37
    • 0026336259 scopus 로고
    • The androgen insensitivity syndrome (testicular feminization): A clinicopathological study of 43 cases
    • Rutgers JL, Scully RE, 1991 The androgen insensitivity syndrome (testicular feminization): a clinicopathological study of 43 cases. Int J Gynecol Pathol 10: 126-144.
    • (1991) Int J Gynecol Pathol , vol.10 , pp. 126-144
    • Rutgers, J.L.1    Scully, R.E.2
  • 38
    • 55149108353 scopus 로고    scopus 로고
    • Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene
    • Epub ahead of print
    • Galani A, Sofocleous C, Karahaliou F, Papathanasiou A, Kitsiou-Tzeli S, Kalpini-Mavrou A, 2008 Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene. Fertil Steril [Epub ahead of print]
    • (2008) Fertil Steril
    • Galani, A.1    Sofocleous, C.2    Karahaliou, F.3    Papathanasiou, A.4    Kitsiou-Tzeli, S.5    Kalpini-Mavrou, A.6
  • 39
    • 0026556088 scopus 로고
    • Male pseudohermaphroditism in XY children with female phenotype
    • Bale PM, Howard NJ, Wright GE, 1992 Male pseudohermaphroditism in XY children with female phenotype. Pediatr Pathol 12: 29-49.
    • (1992) Pediatr Pathol , vol.12 , pp. 29-49
    • Bale, P.M.1    Howard, N.J.2    Wright, G.E.3
  • 40
    • 0001066777 scopus 로고
    • Further observations on the syndrome "testicular feminization"
    • Morris JM, Mahesh VB, 1963 Further observations on the syndrome "testicular feminization". Am J Obstet Gynecol 87: 731-748.
    • (1963) Am J Obstet Gynecol , vol.87 , pp. 731-748
    • Morris, J.M.1    Mahesh, V.B.2
  • 42
    • 33645232353 scopus 로고    scopus 로고
    • Puberty in subjects with complete androgen insensitivity syndrome
    • Papadimitriou DT, Linglart A, Morel Y, Chaussain JL, 2006 Puberty in subjects with complete androgen insensitivity syndrome. Horm Res 65: 126-131.
    • (2006) Horm Res , vol.65 , pp. 126-131
    • Papadimitriou, D.T.1    Linglart, A.2    Morel, Y.3    Chaussain, J.L.4
  • 43
    • 0021127008 scopus 로고
    • Prenatal diagnosis of testicular feminization
    • Stephens JD, 1984 Prenatal diagnosis of testicular feminization. Lancet 2: 1038.
    • (1984) Lancet , vol.2 , pp. 1038
    • Stephens, J.D.1
  • 44
    • 0027181908 scopus 로고
    • Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: Application for diagnosis, genetic counseling, and therapy
    • DOI 10.1210/jc.77.1.262
    • Hiort O, Huang Q, Sinnecker GHG, et al, 1993 Single strand conformational polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counselling and therapy. J Clin Endocrinol Metab 77: 262-266. (Pubitemid 23206813)
    • (1993) Journal of Clinical Endocrinology and Metabolism , vol.77 , Issue.1 , pp. 262-266
    • Hiort, O.1    Huang, Q.2    Sinnecker, G.H.G.3    Sadeghi-Nejad, A.B.4    Kruse, K.5    Wolfe, H.J.6    Yandell, D.W.7
  • 45
    • 0002948430 scopus 로고
    • Disorders of sex differentiation
    • Wilson JD, Foster DW(eds) Saunders, Philadelphia
    • Grumbach MM, Conte FA 1991 Disorders of sex differentiation. In: Wilson JD, Foster DW(eds) Williams textbook of endocrinology, Saunders, Philadelphia; pp, 853-951.
    • (1991) Williams Textbook of Endocrinology , pp. 853-951
    • Grumbach, M.M.1    Conte, F.A.2
  • 46
    • 0018341415 scopus 로고
    • Androgen insensitivity as a cause of infertility in otherwise normal men
    • Aiman J, Griffin JE, Gazak JM, Wilson JD, MacDonald PC, 1979 Androgen insensitivity as a cause of infertility in otherwise normal men. N eng J Med 300: 223-227. (Pubitemid 9120162)
    • (1979) New England Journal of Medicine , vol.300 , Issue.5 , pp. 223-227
    • Aiman, J.1    Griffin, J.E.2    Gazak, J.M.3
  • 49
    • 33750063440 scopus 로고    scopus 로고
    • Male infertility and androgen receptor gene mutations: Clinical features and identification of seven novel mutations
    • DOI 10.1111/j.1365-2265.2006.02635.x
    • Ferlin A, Vinanzi C, Garolla A, et al, 2006 Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations. Clin Endocrinol (Oxf) 65: 606-610. (Pubitemid 44583820)
    • (2006) Clinical Endocrinology , vol.65 , Issue.5 , pp. 606-610
    • Ferlin, A.1    Vinanzi, C.2    Garolla, A.3    Selice, R.4    Zuccarello, D.5    Cazzadore, C.6    Foresta, C.7
  • 50
    • 0037622786 scopus 로고    scopus 로고
    • Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: Five novel mutations in the androgen receptor gene
    • Melo KF, Mendonca BB, Billerbeck AE, et al, 2003 Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab 88: 3241-3250.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 3241-3250
    • Melo, K.F.1    Mendonca, B.B.2    Billerbeck, A.E.3
  • 51
    • 0029958924 scopus 로고    scopus 로고
    • A clinician looks at androgen resistance
    • Balducci R, Ghirri P, Brown TR, et al, 1996 A clinician looks at androgen resistance. Steroids 61: 205-211.
    • (1996) Steroids , vol.61 , pp. 205-211
    • Balducci, R.1    Ghirri, P.2    Brown, T.R.3
  • 54
    • 0023006026 scopus 로고
    • Mild androgen insensitivity presenting with sexual dysfunction
    • Cundy TF, Rees M, Evans BAJ, Hughes IA, Butler J, Wheeler MJ, 1986 Mild androgen insensitivity presenting with sexual dysfunction. Fertil Steril 46: 721-723. (Pubitemid 17173094)
    • (1986) Fertility and Sterility , vol.46 , Issue.4 , pp. 721-723
    • Cundy, T.F.1    Rees, M.2    Evans, B.A.J.3
  • 55
    • 0021722217 scopus 로고
    • Human minimal androgen insensitivity with normal dihydrotestosterone- binding capacity in cultured genital skin fibroblasts: Evidence for an androgen-selective qualitative abnormality of the receptor
    • Pinsky L, Kaufman K, Killinger DW, Burko B, Shatz D, Volpe R, 1984 Human minimal androgen insensitivity with normal dihydrosterone-binding capacity in cultured genital skin fibroblasts: evidence for an androgen-selective qualitative abnormality of the receptor. Am J Hum Genet 36: 965-978. (Pubitemid 15205729)
    • (1984) American Journal of Human Genetics , vol.36 , Issue.5 , pp. 965-978
    • Pinsky, L.1    Kaufman, M.2    Killinger, D.W.3
  • 56
    • 40749093681 scopus 로고    scopus 로고
    • Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility
    • Oxf
    • Zuccarello D, Ferlin A, Vinanzi C, et al, 2008 Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility. Clin Endocrinol (Oxf) 68: 580-588.
    • (2008) Clin Endocrinol , vol.68 , pp. 580-588
    • Zuccarello, D.1    Ferlin, A.2    Vinanzi, C.3
  • 57
    • 33750063440 scopus 로고    scopus 로고
    • Male infertility and androgen receptor gene mutations: Clinical features and identification of seven novel mutations
    • DOI 10.1111/j.1365-2265.2006.02635.x
    • Ferlin A, Vinanzi C, Garolla A, et al, 2006 Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations. Clin Endocrinol (Oxf) 65: 606-610. (Pubitemid 44583820)
    • (2006) Clinical Endocrinology , vol.65 , Issue.5 , pp. 606-610
    • Ferlin, A.1    Vinanzi, C.2    Garolla, A.3    Selice, R.4    Zuccarello, D.5    Cazzadore, C.6    Foresta, C.7
  • 59
    • 33644821997 scopus 로고    scopus 로고
    • Decreased androgen receptor gene methylation in premature pubarche: A novel pathogenetic mechanism?
    • Vottero A, Capelletti M, Giuliodori S, et al, 2006 Decreased androgen receptor gene methylation in premature pubarche: a novel pathogenetic mechanism? J Clin Endocrinol Metab 91: 968-972.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 968-972
    • Vottero, A.1    Capelletti, M.2    Giuliodori, S.3
  • 60
    • 0028817671 scopus 로고
    • Primary sensory neurons in X-linked recessive bulbospinal neuropathy: Histopathology and androgen receptor gene expression
    • Li M, Sobue G, Doyu M, Mukai E, Hashizume Y, Mitsuma T, 1995 Primary sensory neurons in X-linked recessive bulbospinal neuropathy: histopathology and androgen receptor gene expression. Muscle Nerve 18: 301-308.
    • (1995) Muscle Nerve , vol.18 , pp. 301-308
    • Li, M.1    Sobue, G.2    Doyu, M.3    Mukai, E.4    Hashizume, Y.5    Mitsuma, T.6
  • 63
    • 0018577889 scopus 로고
    • Testicular function in post pubertal male pseudohermaphroditism
    • Campo S, Stivel M, Nicolau G, Monteagudo C, Rivarola M, 1979 Testicular function in postpubertal male pseudohermaphroditism. Clin Endocrinol (Oxf) 11: 481-490. (Pubitemid 10175104)
    • (1979) Clinical Endocrinology , vol.11 , Issue.5 , pp. 481-490
    • Campo, S.1    Stivel, M.2    Nicolau, G.3
  • 64
    • 0020418738 scopus 로고
    • Hormonal evaluation of a large kindred with complete androgen insensitivity: Evidence for secondary 5a-reductase deficiency
    • Imperato-McGinley J, Peterson RE, Gautier T, et al, 1982 Hormonal evaluation of a large kindred with complete androgen insensitivity syndrome: evidence for secondary 5a-reductase deficiency. J Clin Endocrinol Metabol 54: 931-941. (Pubitemid 13243700)
    • (1982) Journal of Clinical Endocrinology and Metabolism , vol.54 , Issue.5 , pp. 931-941
    • Imperato-McGinley, J.1    Peterson, R.E.2    Gautier, T.3
  • 65
    • 0002719881 scopus 로고
    • The androgen resistance syndromes: 5a-reductase deficiency, testicular feminization, and related disorders
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Griffin JE, Wilson JD 1989 The androgen resistance syndromes: 5a-reductase deficiency, testicular feminization, and related disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The Metabolic basis of inherited disease, McGraw-Hill, New York; pp, 1919-1944.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 1919-1944
    • Griffin, J.E.1    Wilson, J.D.2
  • 66
    • 0018134393 scopus 로고
    • Studies of gonadotrophin-gonadal dynamics in patients with androgen insensitivity
    • Boyar RM, Moore RJ, Ronser W, et al, 1978 Studies of gonadotrophin- gonadal dynamics in patients with androgen insensitivity. J Clin Endocrinol Metab 47: 1116-1122.
    • (1978) J Clin Endocrinol Metab , vol.47 , pp. 1116-1122
    • Boyar, R.M.1    Moore, R.J.2    Ronser, W.3
  • 67
    • 0242404297 scopus 로고    scopus 로고
    • Novel point mutations in complete androgen insensitivity syndrome with incomplete móllerian regression: Two Taiwanese patients
    • Van YH, Li JL, Huang SF, Luo CC, Hwang CS, Lo FS, 2003 Novel point mutations in complete androgen insensitivity syndrome with incomplete móllerian regression: two Taiwanese patients. Eur J Pediatr 162: 781-784.
    • (2003) Eur J Pediatr , vol.162 , pp. 781-784
    • Van, Y.H.1    Li, J.L.2    Huang, S.F.3    Luo, C.C.4    Hwang, C.S.5    Lo, F.S.6
  • 68
    • 2642544224 scopus 로고    scopus 로고
    • The androgen receptor gene mutations database (ARDB): 2004 update
    • Gottlieb B, Beitel LK, Wu JH, Trifiro, 2004 The androgen receptor gene mutations database (ARDB): 2004 update. Hum Mutat 23: 527-533.
    • (2004) Hum Mutat , vol.23 , pp. 527-533
    • Gottlieb, B.1    Beitel, L.K.2    Wu, J.H.3    Trifiro4
  • 71
    • 0031812217 scopus 로고    scopus 로고
    • Inherited and de novo androgen receptor gene mutations: Investigation of single-case families
    • DOI 10.1016/S0022-3476(98)70387-7
    • Hiort O, Sinnecker GH, Holterhus PM, Nitsche EM, Kruse K, 1998 Inherited and de novo androgen receptor gene mutations: investigation of single-case families. J Pediatr 132: 939-943. (Pubitemid 28280402)
    • (1998) Journal of Pediatrics , vol.132 , Issue.6 , pp. 939-943
    • Hiort, O.1    Sinnecker, G.H.G.2    Holterbus, P.-M.3    Nitsche, E.M.4    Kruse, K.5
  • 74
    • 0032703696 scopus 로고    scopus 로고
    • Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome
    • Holterhus PM, Wiebel J, Sinnecker GH, et al, 1999 Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. Pediatr Res 46: 684-690.
    • (1999) Pediatr Res , vol.46 , pp. 684-690
    • Holterhus, P.M.1    Wiebel, J.2    Sinnecker, G.H.3
  • 76
    • 0035725372 scopus 로고    scopus 로고
    • Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene
    • DOI 10.1046/j.1365-2265.2001.01205.x
    • Ogata T, Muroya K, Ishii T, Suzuki Y, Nakada T, Sasagawa I, 2001 Undermasculinized genitalia in a boy with an abnormally expanded CAG repeat length in the androgen receptor gene. Clin Endocrinol 54 : 835-838. (Pubitemid 34208895)
    • (2001) Clinical Endocrinology , vol.54 , Issue.6 , pp. 835-838
    • Ogata, T.1    Muroya, K.2    Ishii, T.3    Suzuki, Y.4    Nakada, T.5    Sasagawa, I.6
  • 77
    • 0034699649 scopus 로고    scopus 로고
    • Androgen insensitivity syndrome as a possible coactivator disease
    • Adachi M, Takayanagi R, Tomura A, et al, 2000 Androgen insensitivity syndrome as a possible coactivator disease. N Eng J Med 343: 856-862.
    • (2000) N Eng J Med , vol.343 , pp. 856-862
    • Adachi, M.1    Takayanagi, R.2    Tomura, A.3
  • 78
    • 0035049474 scopus 로고    scopus 로고
    • Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability
    • Boehmer AL, Brinkmann AO, Nijman RM, et al, 2001 Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. J Clin Endocrinol Metab 86: 1240-1246.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 1240-1246
    • Boehmer, A.L.1    Brinkmann, A.O.2    Nijman, R.M.3
  • 83
    • 0034454583 scopus 로고    scopus 로고
    • Nuclear hormone receptor coregulators in action: Diversity for shared tasks
    • DOI 10.1210/me.14.3.329
    • Robyr D, Wolffe AP, Wahli W, 2000 Nuclear hormone receptor coregulators in action: diversity for shared tasks. Mol Endocrinol 14: 329-347. (Pubitemid 32266074)
    • (2000) Molecular Endocrinology , vol.14 , Issue.3 , pp. 329-347
    • Robyr, D.1    Wolffe, A.P.2    Wahli, W.3
  • 84
    • 28544432415 scopus 로고    scopus 로고
    • Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations
    • DOI 10.1007/s00109-005-0704-y
    • Holterhus PM, Werner R, Hoppe U, et al, 2005 Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations. J Mol Med 83: 1005-1013. (Pubitemid 41745759)
    • (2005) Journal of Molecular Medicine , vol.83 , Issue.12 , pp. 1005-1013
    • Holterhus, P.M.1    Werner, R.2    Hoppe, U.3    Bassler, J.4    Korsch, E.5    Ranke, M.B.6    Dorr, H.G.7    Hiort, O.8
  • 85
    • 0032796012 scopus 로고    scopus 로고
    • Expression of two functionally different androgen receptors in a patient with androgen insensitivity
    • Holterhus PM, Sinnecker GH, Wollmann HA, et al, 1999 Expression of two functionally different androgen receptors in a patient with androgen insensitivity. Eur J Pediatr 158: 702-706.
    • (1999) Eur J Pediatr , vol.158 , pp. 702-706
    • Holterhus, P.M.1    Sinnecker, G.H.2    Wollmann, H.A.3
  • 86
    • 0032703696 scopus 로고    scopus 로고
    • Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome
    • Holterhus PM, Wiebel J, Sinnecker GH, et al, 1999 Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. Pediatr Res 46: 684-690.
    • (1999) Pediatr Res , vol.46 , pp. 684-690
    • Holterhus, P.M.1    Wiebel, J.2    Sinnecker, G.H.3
  • 88
    • 0032911050 scopus 로고    scopus 로고
    • Significance of the CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M780I mutant AR
    • DOI 10.1007/s004390050945
    • Knoke I, Allera A, Wieacker P, 1999 Significance of CAG repeat length in the androgen receptor gene (AR) for the transactivation function of an M7801 mutant AR. Hum Genet 104: 257-261. (Pubitemid 29182606)
    • (1999) Human Genetics , vol.104 , Issue.3 , pp. 257-261
    • Knoke, I.1    Allera, A.2    Wieacker, P.3
  • 92
    • 34648821992 scopus 로고    scopus 로고
    • A multidisciplinary approach to the management of children with complex genital anomalies
    • DOI 10.1038/ncpendmet0620, PII NCPENDMET0620
    • Dacou-Voutetakis C, 2007 A multidisciplinary approach to the management of children with complex genital anomalies. Nat Clin Pract Endocrinol Metab 3: 668-669. (Pubitemid 47463704)
    • (2007) Nature Clinical Practice Endocrinology and Metabolism , vol.3 , Issue.10 , pp. 668-669
    • Dacou-Voutetakis, C.1
  • 93
    • 12344303072 scopus 로고    scopus 로고
    • Deciding on gender in children with intersex conditions: Considerations and controversies
    • DOI 10.2165/00024677-200504010-00001
    • Thyen U, Richter-Appelt H, Wiesemann C, Holterhus PM, Hiort O, 2005 Deciding on gender in children with intersex conditions: considerations and controversies. Treat Endocrinol 4: 1-8. (Pubitemid 40129106)
    • (2005) Treatments in Endocrinology , vol.4 , Issue.1 , pp. 1-8
    • Thyen, U.1    Richter-Appelt, H.2    Wiesemann, C.3    Holterhus, P.-M.4    Hiort, O.5
  • 94
    • 0141891967 scopus 로고    scopus 로고
    • Puberty in disorders of somatosexual differentiation
    • Hiort O, Reinecke S, Thyen U, et al, 2003 Puberty in disorders of somatosexual differentiation. J Pediatr Endocrinol Metab 16: Supp 2: 297-306.
    • (2003) J Pediatr Endocrinol Metab , vol.16 , Issue.SUPPL. 2 , pp. 297-306
    • Hiort, O.1    Reinecke, S.2    Thyen, U.3
  • 95
    • 33750612246 scopus 로고    scopus 로고
    • R831X mutation of the androgen receptor gene in an adolescent with Complete Androgen Insensitivity Syndrome and bilateral testicular hamartomata
    • Athens
    • Goulis DG, Iliadou PK, Papanicolaou A, et al, 2006 R831X mutation of the androgen receptor gene in an adolescent with Complete Androgen Insensitivity Syndrome and bilateral testicular hamartomata. Hormones (Athens) 5: 200-204.
    • (2006) Hormones , vol.5 , pp. 200-204
    • Goulis, D.G.1    Iliadou, P.K.2    Papanicolaou, A.3
  • 96
    • 0034457325 scopus 로고    scopus 로고
    • Complete androgen insensitivity syndrome: Long-term medical, surgical, and psychosexual outcome
    • Aug
    • Wisniewski AB, Migeon CJ, Meyer-Bahlburg HF, et al, 2000 Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab Aug 85: 2664-2669.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 2664-2669
    • Wisniewski, A.B.1    Migeon, C.J.2    Meyer-Bahlburg, H.F.3
  • 97
    • 33745773870 scopus 로고    scopus 로고
    • Consensus statement on management of intersex disorders
    • DOI 10.1136/adc.2006.098319
    • Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES Consensus Group, ESPE Consensus Group, 2006 Consensus statement on management of intersex disorders. Arch Dis Child 91: 554-563. (Pubitemid 44023350)
    • (2006) Archives of Disease in Childhood , vol.91 , Issue.7 , pp. 554-563
    • Hughes, I.A.1    Houk, C.2    Ahmed, S.F.3    Lee, P.A.4
  • 98
    • 0028023193 scopus 로고
    • Pregnancy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene [17]
    • DOI 10.1016/S0140-6736(94)92385-X
    • Yong EL, Ng SC, Roy AC, Yun G, Ratnam SS, 1994 Pregnacy after hormonal correction of severe spermatogenic defect due to mutation in androgen receptor gene. Lancet 344: 826-827. (Pubitemid 24283983)
    • (1994) Lancet , vol.344 , Issue.8925 , pp. 826-827
    • Yong, E.L.1    Ng, S.C.2    Roy, A.C.3    Yun, G.4    Ratnam, S.S.5
  • 99
    • 0021174912 scopus 로고
    • Partial androgen resistance associated with secondary 5a-reductase deficiency: Identification of a novel qualitative androgen receptor defect and clinical implications
    • Juckier L, Kaufman M, Prinsky L, Peterson RE, 1984 Partial androgen resistance associated with secondary 5a-reductase deficiency: identification of a novel qualitative androgen receptor defect and clinical implications. J Endocrinol Metab 59: 679-688. (Pubitemid 14012491)
    • (1984) Journal of Clinical Endocrinology and Metabolism , vol.59 , Issue.4 , pp. 679-688
    • Jukier, L.1    Kaufman, M.2    Pinsky, L.3    Peterson, R.E.4
  • 100
    • 0021750195 scopus 로고
    • High dose androgen therapy in male pseudohermaphroditism due to 5a-reductase deficiency and disorders of the androgen receptor
    • Price P, Wess JAH, Griffin JE, et al, 1984 High dose androgen therapy in male pseudohermaphroditism due to 5a-reductase deficiency and disorders of the androgen receptor. J Clin Invest 74: 1496-1508. (Pubitemid 15200245)
    • (1984) Journal of Clinical Investigation , vol.74 , Issue.4 , pp. 1496-1508
    • Price, P.1    Wass, J.A.H.2    Griffin, J.E.3
  • 101
    • 0025858749 scopus 로고
    • Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy
    • Mc Phaul MJ, Marcelli M, Tilley WD, Griffin JE, Isidro-Gutierrez RF, Wilson JD, 1991 Molecular basis of androgen resistance in a family with a qualitative abnormality of the androgen receptor and responsive to high-dose androgen therapy. J Clin Invest 87: 1413-1421.
    • (1991) J Clin Invest , vol.87 , pp. 1413-1421
    • Mc Phaul, M.J.1    Marcelli, M.2    Tilley, W.D.3    Griffin, J.E.4    Isidro-Gutierrez, R.F.5    Wilson, J.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.