메뉴 건너뛰기




Volumn 41, Issue 4, 2009, Pages 257-263

Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: Report of a family with four adult males and one child with disorder of sexual differentiation

Author keywords

5 Alpha reductase; Androgen insensitivity; Genotype; Phenotype

Indexed keywords

ANDROGEN RECEPTOR; BOLDENONE; FOLLITROPIN; LUTEINIZING HORMONE; STEROID 5ALPHA REDUCTASE 2; TESTOSTERONE;

EID: 67650708690     PISSN: 03034569     EISSN: 14390272     Source Type: Journal    
DOI: 10.1111/j.1439-0272.2009.00921.x     Document Type: Article
Times cited : (15)

References (29)
  • 2
    • 0032965063 scopus 로고    scopus 로고
    • Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome
    • Ahmed SF, Cheng A, Hughes IA (1999) Assessment of gonadotrophin-gonadal axis in androgen insensitivity syndrome. Arch Dis Child 80 : 324 329. (Pubitemid 29164754)
    • (1999) Archives of Disease in Childhood , vol.80 , Issue.4 , pp. 324-329
    • Ahmed, S.F.1    Cheng, A.2    Hughes, I.A.3
  • 3
    • 0030059911 scopus 로고    scopus 로고
    • Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome
    • Bevan CL, Brown BB, Davies HR, Evans BA, Hughes IA, Patterson MN (1999) Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. Hum Mol Genet 5 : 265 273.
    • (1999) Hum Mol Genet , vol.5 , pp. 265-273
    • Bevan, C.L.1    Brown, B.B.2    Davies, H.R.3    Evans, B.A.4    Hughes, I.A.5    Patterson, M.N.6
  • 7
    • 22044454458 scopus 로고    scopus 로고
    • Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome
    • DOI 10.1111/j.1365-2265.2005.02298.x
    • Deeb A, Mason C, Lee YS, Hughes IA (2005) Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clin Endocrinol (Oxf) 63 : 56 62. (Pubitemid 40966403)
    • (2005) Clinical Endocrinology , vol.63 , Issue.1 , pp. 56-62
    • Deeb, A.1    Mason, C.2    Lee, Y.S.3    Hughes, I.A.4
  • 9
    • 0029025826 scopus 로고
    • A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome
    • Gast A, Neuschmid-Kaspar F, Klocker H, Cato AC (1995) A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome. Mol Cell Endocrinol 111 : 93 98.
    • (1995) Mol Cell Endocrinol , vol.111 , pp. 93-98
    • Gast, A.1    Neuschmid-Kaspar, F.2    Klocker, H.3    Cato, A.C.4
  • 12
    • 0033694520 scopus 로고    scopus 로고
    • Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity
    • Holterhus PM, Sinnecker GH, Hiort O (2000) Phenotypic diversity and testosterone-induced normalization of mutant L712F androgen receptor function in a kindred with androgen insensitivity. J Clin Endocrinol Metab 85 : 3245 3250. (Pubitemid 30944533)
    • (2000) Journal of Clinical Endocrinology and Metabolism , vol.85 , Issue.9 , pp. 3245-3250
    • Holterhus, P.-M.1    Sinnecker, G.H.G.2    Hiort, O.3
  • 13
    • 0020418738 scopus 로고
    • Hormonal evaluation of a large kindred with complete androgen insensitivity: Evidence for secondary 5α-reductase deficiency
    • Imperato-McGinley J, Peterson RE, Gautier T, Cooper G, Danner R, Arthur A, Morris PL, Sweeney WJ, Shacklaton C (1982) Hormonal evaluation of a large kindred with complete androgen insensitivity: evidence for secondary 5 alpha-reductase deficiency. J Clin Endocrinol Metab 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
  • 15
    • 0027363415 scopus 로고
    • A mutant androgen receptor from patients with Reifenstein syndrome : iiidentification of the function of a conserved alanine residue in the D box of steroid receptors
    • Kaspar F, Klocker H, Denninger A, Cato AC (1993b) A mutant androgen receptor from patients with Reifenstein syndrome : identification of the function of a conserved alanine residue in the D box of steroid receptors. Mol Cell Biol 13 : 7850 7858.
    • (1993) Mol Cell Biol , vol.13 , pp. 7850-7858
    • Kaspar, F.1    Klocker, H.2    Denninger, A.3    Cato, A.C.4
  • 16
    • 0018594007 scopus 로고
    • Male pseudohermaphroditism: A comparative study of one patient with 5α-reductase deficiency and three patients with the complete form of testicular feminization
    • Kuttenn F, Mowszowicz I, Wright F, Baudot N, Jaffiol C, Robin M, Mauvais-Jarvis P (1979) Male pseudohermaphroditism: a comparative study of one patient with 5 alpha-reductase deficiency and three patients with the complete form of testicular feminization. J Clin Endocrinol Metab 49 : 861 865. (Pubitemid 10171332)
    • (1979) Journal of Clinical Endocrinology and Metabolism , vol.49 , Issue.6 , pp. 861-865
    • Kuttenn, F.1    Mowszowicz, I.2    Wright, F.3
  • 17
  • 19
    • 0033813598 scopus 로고    scopus 로고
    • Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor
    • Lundberg Giwercman Y, Nikoshkov A, Lindsten K, Bystrom B, Pousette A, Knudtzon J, Ahn J, Wedell A (2000) Response to treatment in patients with partial androgen insensitivity due to mutations in the DNA-binding domain of the androgen receptor. Horm Res 53 : 83 88. (Pubitemid 30687577)
    • (2000) Hormone Research , vol.53 , Issue.2 , pp. 83-88
    • Giwercman, Y.L.1    Nikoshkov, A.2    Lindsten, K.3    Bystrom, B.4    Pousette, A.5    Knudtzon, J.6    Alm, J.7    Wedell, A.8
  • 20
    • 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
    • McPhaul 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
    • McPhaul, M.J.1    Marcelli, M.2    Tilley, W.D.3    Griffin, J.E.4    Isidro-Gutierrez, R.F.5    Wilson, J.D.6
  • 22
    • 0001066777 scopus 로고
    • Further observations on the syndrome, 'testicular feminisation'
    • Morris JM, Mahesh VB (1963) Further observations on the syndrome, 'testicular feminisation'. 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
  • 23
    • 0031769479 scopus 로고    scopus 로고
    • Molecular characterization of 5α-reductase type 2 deficiency and fertility in a Swedish family
    • DOI 10.1210/jc.83.9.3236
    • Nordenskjold A, Ivarsson SA (1998) Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family. J Clin Endocrinol Metab 83 : 3236 3238. (Pubitemid 28500965)
    • (1998) Journal of Clinical Endocrinology and Metabolism , vol.83 , Issue.9 , pp. 3236-3238
    • Nordenskjold, A.1    Ivarsson, S.-A.2
  • 24
    • 0029069878 scopus 로고
    • Androgen receptor defects: Historical, clinical, and molecular perspectives
    • Erratum in Endocr Rev 1995 16:546.
    • Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS (1995) Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 16 : 271 321. Erratum in Endocr Rev 1995 16:546.
    • (1995) Endocr Rev , vol.16 , pp. 271-321
    • Quigley, C.A.1    De Bellis, A.2    Marschke, K.B.3    El-Awady, M.K.4    Wilson, E.M.5    French, F.S.6
  • 25
    • 33947246101 scopus 로고    scopus 로고
    • Phenotypic heterogeneity of mutations in androgen receptor gene
    • DOI 10.1111/j.1745-7262.2007.00250.x
    • Rajender S, Singh L, Thangaraj K (2007) Phenotypic heterogeneity of mutations in androgen receptor gene. Asian J Androl 9 : 147 179. (Pubitemid 46416577)
    • (2007) Asian Journal of Andrology , vol.9 , Issue.2 , pp. 147-179
    • Rajender, S.1    Singh, L.2    Thangaraj, K.3    Lee, W.M.4
  • 27
    • 0015354608 scopus 로고
    • Plasma concentration of testosterone, dihydrotestosterone, testosterone-binding globulin and pituitary gonadotrophins in the syndrome of male pseudohermaphroditism with testicular feminisation
    • Tremblay RR, Foley TP, Corvol P, Park IJ, Kowarski A, Blizzard RM, Jones HW Jr., Migeon CJ (1972) Plasma concentration of testosterone, dihydrotestosterone, testosterone-binding globulin and pituitary gonadotrophins in the syndrome of male pseudohermaphroditism with testicular feminisation. Acta Endocrinol 70 : 331 341.
    • (1972) Acta Endocrinol , vol.70 , pp. 331-341
    • Tremblay, R.R.1    Foley, T.P.2    Corvol, P.3    Park, I.J.4    Kowarski, A.5    Blizzard, R.M.6    Jones, Jr.H.W.7    Migeon, C.J.8
  • 29
    • 0036244805 scopus 로고    scopus 로고
    • Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor
    • DOI 10.1159/000057958
    • Zenteno JC, Chavez B, Vilchis F, Kofman-Alfaro S (2002) Phenotypic heterogeneity associated with identical mutations in residue 870 of the androgen receptor. Horm Res 57 : 90 93. (Pubitemid 34507621)
    • (2002) Hormone Research , vol.57 , Issue.3-4 , pp. 90-93
    • Zenteno, J.C.1    Chavez, B.2    Vilchis, F.3    Kofman-Alfaro, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.