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Volumn 30, Issue 11, 2008, Pages 566-572

Primary amenorrhea and XY karyotype: Identifying patients in risk;Amenorréia primária e cariótipo XY: Identificando pacientes em risco

Author keywords

17 alpha hydroxylase; 46,XY gonadal dysgenesis; Amenorrhea; Androgen receptors; Dihydrotestosterone; Sexual differentiation; Testosterone; Y chromosome

Indexed keywords

ADOLESCENT; ADULT; AMENORRHEA; ARTICLE; FEMALE; GENETICS; HUMAN; KARYOTYPING; PEDIGREE; PREVALENCE; RISK FACTOR; SEX CHROMOSOME ABERRATION;

EID: 58649116917     PISSN: 01007203     EISSN: None     Source Type: Journal    
DOI: 10.1590/S0100-72032008001100007     Document Type: Article
Times cited : (4)

References (28)
  • 1
    • 0025477125 scopus 로고
    • Cytogenetic studies in women with primary amenorrhea
    • Ten SK, Chin YM, Noor PJ, Hassan K. Cytogenetic studies in women with primary amenorrhea. Singapore Med J. 1990;31(4):355-9.
    • (1990) Singapore Med J , vol.31 , Issue.4 , pp. 355-359
    • Ten, S.K.1    Chin, Y.M.2    Noor, P.J.3    Hassan, K.4
  • 2
    • 33750002551 scopus 로고    scopus 로고
    • Current evaluation of amenorrhea
    • Practice Committee of the American Society for Reproductive Medicine
    • Practice Committee of the American Society for Reproductive Medicine. Current evaluation of amenorrhea. Fertil Steril. 2006;86(5 Suppl):S148-55.
    • (2006) Fertil Steril , vol.86 , Issue.5 SUPPL.
  • 3
    • 0017834275 scopus 로고
    • Chromosomes and the gynecologist
    • van Niekerk WA. Chromosomes and the gynecologist. Am J Obstet Gynecol. 1978;130(8):862-75.
    • (1978) Am J Obstet Gynecol , vol.130 , Issue.8 , pp. 862-875
    • van Niekerk, W.A.1
  • 4
    • 0020973397 scopus 로고
    • Cytogenetic investigation of 103 patients with primary or secondary amenorrhea
    • Opitz O, Zoll B, Hansmann I, Hinney B. Cytogenetic investigation of 103 patients with primary or secondary amenorrhea. Hum Genet. 1983;65(1):46-7.
    • (1983) Hum Genet , vol.65 , Issue.1 , pp. 46-47
    • Opitz, O.1    Zoll, B.2    Hansmann, I.3    Hinney, B.4
  • 5
    • 23844502586 scopus 로고    scopus 로고
    • Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: Retrospective study
    • Wong MS, Lam ST. Cytogenetic analysis of patients with primary and secondary amenorrhoea in Hong Kong: retrospective study. Hong Kong Med J. 2005;11(4):267-72.
    • (2005) Hong Kong Med J , vol.11 , Issue.4 , pp. 267-272
    • Wong, M.S.1    Lam, S.T.2
  • 6
    • 58649098595 scopus 로고    scopus 로고
    • Estudo citogenético das gônadas em pacientes com amenorréia primária.
    • D'Agostini C, Gus R, Capp E, Corleta HVE. Estudo citogenético das gônadas em pacientes com amenorréia primária. Rev Bras Ginecol Obstet. 2005;27(3):125-9.
    • (2005) Rev Bras Ginecol Obstet , vol.27 , Issue.3 , pp. 125-129
    • D'Agostini, C.1    Gus, R.2    Capp, E.3    Corleta, H.V.E.4
  • 7
    • 0018955176 scopus 로고
    • Importance of early diagnosis and gonadectomy in 46, XY females
    • MacMahon RA, Cussen LJ, Walters WA. Importance of early diagnosis and gonadectomy in 46, XY females. J Pediatr Surg. 1980;15(5):642-5.
    • (1980) J Pediatr Surg , vol.15 , Issue.5 , pp. 642-645
    • MacMahon, R.A.1    Cussen, L.J.2    Walters, W.A.3
  • 10
    • 34547770244 scopus 로고    scopus 로고
    • Dysgerminoma in three patients with Swyer syndrome
    • Behtash N, Karimi Zarchi M. Dysgerminoma in three patients with Swyer syndrome. World J Surg Oncol. 2007;5:71.
    • (2007) World J Surg Oncol , vol.5 , pp. 71
    • Behtash, N.1    Karimi Zarchi, M.2
  • 11
    • 41949111680 scopus 로고    scopus 로고
    • Swyer syndrome: Presentation and outcomes
    • Michala L, Goswami D, Creighton SM, Conway GS. Swyer syndrome: presentation and outcomes. BJOG. 2008;115(6):737-41.
    • (2008) BJOG , vol.115 , Issue.6 , pp. 737-741
    • Michala, L.1    Goswami, D.2    Creighton, S.M.3    Conway, G.S.4
  • 12
    • 23744439831 scopus 로고    scopus 로고
    • New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2
    • Hackel C, Oliveira LE, Ferraz LF, Tonini MM, Silva DN, Toralles MB, et al. New mutations, hotspots, and founder effects in Brazilian patients with steroid 5α-reductase deficiency type 2. J Mol Med. 2005;83(7):569-76.
    • (2005) J Mol Med , vol.83 , Issue.7 , pp. 569-576
    • Hackel, C.1    Oliveira, L.E.2    Ferraz, L.F.3    Tonini, M.M.4    Silva, D.N.5    Toralles, M.B.6
  • 14
    • 43549121675 scopus 로고    scopus 로고
    • Abnormal sex differentiation: Who, how and when to image
    • Garel L. Abnormal sex differentiation: who, how and when to image. Pediatr Radiol. 2008;38 Suppl 3:S508-11.
    • (2008) Pediatr Radiol , vol.38 , Issue.SUPPL. 3
    • Garel, L.1
  • 15
    • 38949107242 scopus 로고    scopus 로고
    • Disorders of sex development: A new definition and classification
    • Hughes IA. Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab. 2008;22(1):119-34.
    • (2008) Best Pract Res Clin Endocrinol Metab , vol.22 , Issue.1 , pp. 119-134
    • Hughes, I.A.1
  • 16
    • 0021363619 scopus 로고
    • Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality
    • Anglani F, Baccichetti C, Artifoni L, Lenzini E, Tenconi R. Frequency of abnormal karyotypes in relation to the ascertainment method in females referred for suspected sex chromosome abnormality. Clin Genet. 1984;25(3):242-7.
    • (1984) Clin Genet , vol.25 , Issue.3 , pp. 242-247
    • Anglani, F.1    Baccichetti, C.2    Artifoni, L.3    Lenzini, E.4    Tenconi, R.5
  • 17
    • 0023195822 scopus 로고
    • The etiology in 77 primary amenorrhea patients
    • Chryssikopoulos A, Grigoriou O. The etiology in 77 primary amenorrhea patients. Int J Fertil. 1987;32(3):245-9.
    • (1987) Int J Fertil , vol.32 , Issue.3 , pp. 245-249
    • Chryssikopoulos, A.1    Grigoriou, O.2
  • 18
    • 33745559441 scopus 로고    scopus 로고
    • Insensibilidade completa aos andrógenos em pacientes brasileiras causada pela mutação P766A no gene do receptor androgênico.
    • Corrêa RV, Wey JC, Billerbeck AEC, Melo KFS, Mendonça BB, Wey MV, et al. Insensibilidade completa aos andrógenos em pacientes brasileiras causada pela mutação P766A no gene do receptor androgênico. Arq Bras Endocrinol Metab. 2005;49(1):98-102.
    • (2005) Arq Bras Endocrinol Metab , vol.49 , Issue.1 , pp. 98-102
    • Corrêa, R.V.1    Wey, J.C.2    Billerbeck, A.E.C.3    Melo, K.F.S.4    Mendonça, B.B.5    Wey, M.V.6
  • 19
    • 0033054724 scopus 로고    scopus 로고
    • Androgen receptor gene mutations in 46,XY females with germ cell tumours
    • Chen CP, Chern SR, Wang TY, Wang W, Wang KL, Jeng CJ. Androgen receptor gene mutations in 46,XY females with germ cell tumours. Hum Reprod. 1999;14(3):664-70.
    • (1999) Hum Reprod , vol.14 , Issue.3 , pp. 664-670
    • Chen, C.P.1    Chern, S.R.2    Wang, T.Y.3    Wang, W.4    Wang, K.L.5    Jeng, C.J.6
  • 20
    • 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, Mendonça BB, Billerbeck AE, Costa EM, Inácio M, Silva FA, et al. 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. 2003;88(7):3241-50.
    • (2003) J Clin Endocrinol Metab , vol.88 , Issue.7 , pp. 3241-3250
    • Melo, K.F.1    Mendonça, B.B.2    Billerbeck, A.E.3    Costa, E.M.4    Inácio, M.5    Silva, F.A.6
  • 21
    • 0030905021 scopus 로고    scopus 로고
    • Complete androgen insensitivity syndrome: Clinical and anatomopathological findings in 23 patients
    • Alvarez-Nava F, Gonzalez S, Soto M, Martinez C, Prieto M. Complete androgen insensitivity syndrome: clinical and anatomopathological findings in 23 patients. Genet Couns. 1997;8(1):7-12.
    • (1997) Genet Couns , vol.8 , Issue.1 , pp. 7-12
    • Alvarez-Nava, F.1    Gonzalez, S.2    Soto, M.3    Martinez, C.4    Prieto, M.5
  • 22
    • 50949111114 scopus 로고    scopus 로고
    • Long-term follow up and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome
    • Cheikhelard A, Morel Y, Thibaud E, Lortat-Jacob S, Jaubert F, Polak M, et al. Long-term follow up and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. J Urol. 2008;180(4):1496-501.
    • (2008) J Urol , vol.180 , Issue.4 , pp. 1496-1501
    • Cheikhelard, A.1    Morel, Y.2    Thibaud, E.3    Lortat-Jacob, S.4    Jaubert, F.5    Polak, M.6
  • 23
    • 2942560793 scopus 로고    scopus 로고
    • Description and molecular analysis of SRY and AR genes in a patient with 46, XY pure gonadal dysgenesis (Swyer syndrome)
    • Iliopoulos D, Volakakis N, Tsiga A, Rousso I, Voyiatzis N. Description and molecular analysis of SRY and AR genes in a patient with 46, XY pure gonadal dysgenesis (Swyer syndrome). Ann Genet. 2004;47(2):185-90.
    • (2004) Ann Genet , vol.47 , Issue.2 , pp. 185-190
    • Iliopoulos, D.1    Volakakis, N.2    Tsiga, A.3    Rousso, I.4    Voyiatzis, N.5
  • 24
    • 0036321725 scopus 로고    scopus 로고
    • Successful pregnancy in a patient with a 46, XY karyotype
    • Selvaraj K, Ganesh V, Selvaraj P. Successful pregnancy in a patient with a 46, XY karyotype. Fertil Steril. 2002;78(2):419-20.
    • (2002) Fertil Steril , vol.78 , Issue.2 , pp. 419-420
    • Selvaraj, K.1    Ganesh, V.2    Selvaraj, P.3
  • 25
  • 26
    • 0024691675 scopus 로고
    • Male pseudohermaphroditism caused by 17-alpha-hydroxylase deficiency. Personal case reports and a review of the literature
    • De Marinis L, Mancini A, Saporosi A, Calabrò F, Massari M, Moneta E, et al. Male pseudohermaphroditism caused by 17-alpha-hydroxylase deficiency. Personal case reports and a review of the literature. Minerva Ginecol. 1989;41(7):337-42.
    • (1989) Minerva Ginecol , vol.41 , Issue.7 , pp. 337-342
    • De Marinis, L.1    Mancini, A.2    Saporosi, A.3    Calabrò, F.4    Massari, M.5    Moneta, E.6
  • 28
    • 38049098261 scopus 로고    scopus 로고
    • Molecular characterization of 6 unrelated Italian patients with 5α-reductase type 2 deficiency
    • Baldinotti F, Majore S, Fogli A, Marrocco G, Ghirri P, Vuerich M, et al. Molecular characterization of 6 unrelated Italian patients with 5α-reductase type 2 deficiency. J Androl. 2008;29(1):20-8.
    • (2008) J Androl , vol.29 , Issue.1 , pp. 20-28
    • Baldinotti, F.1    Majore, S.2    Fogli, A.3    Marrocco, G.4    Ghirri, P.5    Vuerich, M.6


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