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Volumn 25, Issue 3, 2012, Pages

46,XY Karyotype in a Female Phenotype Fetus: A Challenging Diagnosis

Author keywords

17betaHSD3 deficiency; 46,XY DSD; Prenatal diagnosis

Indexed keywords

ANDROGEN RECEPTOR; ANDROSTENEDIONE; FOLLITROPIN; LUTEINIZING HORMONE; PRASTERONE SULFATE; SEX HORMONE BINDING GLOBULIN; STEROID 5ALPHA REDUCTASE; TESTOSTERONE;

EID: 84860795738     PISSN: 10833188     EISSN: 18734332     Source Type: Journal    
DOI: 10.1016/j.jpag.2012.03.001     Document Type: Article
Times cited : (5)

References (8)
  • 1
    • 33748439007 scopus 로고    scopus 로고
    • International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology: Consensus statement on management of intersex disorders. International Consensus Conference on Intersex
    • Lee P.A., Houk C.P., Ahmed S.F., et al. International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology: Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics 2006, 118:e488.
    • (2006) Pediatrics , vol.118
    • Lee, P.A.1    Houk, C.P.2    Ahmed, S.F.3
  • 3
    • 0033233294 scopus 로고    scopus 로고
    • 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations
    • Boehmer A.L., Brinkmann A.O., Sandkuijl L.A., et al. 17Beta-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.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 4713
    • Boehmer, A.L.1    Brinkmann, A.O.2    Sandkuijl, L.A.3
  • 4
    • 72449125117 scopus 로고    scopus 로고
    • 17beta-hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence
    • Bertelloni S., Balsamo A., Giordani L., et al. 17beta-hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence. J Endocrinol Invest 2009, 32:666.
    • (2009) J Endocrinol Invest , vol.32 , pp. 666
    • Bertelloni, S.1    Balsamo, A.2    Giordani, L.3
  • 5
    • 77958077933 scopus 로고    scopus 로고
    • The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency
    • George M.M., New M.I., Ten S., et al. The clinical and molecular heterogeneity of 17βHSD-3 enzyme deficiency. Horm Res Paediatr 2010, 74:229.
    • (2010) Horm Res Paediatr , vol.74 , pp. 229
    • George, M.M.1    New, M.I.2    Ten, S.3
  • 7
    • 22144434343 scopus 로고    scopus 로고
    • Gender change in 46, XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency
    • Cohen-Kettenis P.T. Gender change in 46, XY persons with 5alpha-reductase-2 deficiency and 17beta-hydroxysteroid dehydrogenase-3 deficiency. Arch Sex Behav 2005, 34:399.
    • (2005) Arch Sex Behav , vol.34 , pp. 399
    • Cohen-Kettenis, P.T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.