Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females.
genetic conditions
References
Bernard P, Harley VR. Wnt4 action in gonadal development and sexdetermination. Int J Biochem Cell Biol. 2007;39(1):31-43.Review.
Biason-Lauber A, De Filippo G, Konrad D, Scarano G, Nazzaro A, Schoenle EJ.WNT4 deficiency--a clinical phenotype distinct from the classicMayer-Rokitansky-Kuster-Hauser syndrome: a case report. Hum Reprod. 2007Jan;22(1):224-9.
Biason-Lauber A, Konrad D, Navratil F, Schoenle EJ. A WNT4 mutation associatedwith Müllerian-duct regression and virilization in a 46,XX woman. N Engl J Med.2004 Aug 19;351(8):792-8.
Biason-Lauber A, Konrad D. WNT4 and sex development. Sex Dev.2008;2(4-5):210-8. doi: 10.1159/000152037.
Biason-Lauber A. WNT4, RSPO1, and FOXL2 in sex development. Semin Reprod Med. 2012 Oct;30(5):387-95. doi: 10.1055/s-0032-1324722.
Philibert P, Biason-Lauber A, Gueorguieva I, Stuckens C, Pienkowski C,Lebon-Labich B, Paris F, Sultan C. Molecular analysis of WNT4 gene in fouradolescent girls with mullerian duct abnormality and hyperandrogenism (atypicalMayer-Rokitansky-Küster-Hauser syndrome). Fertil Steril. 2011 Jun30;95(8):2683-6. doi: 10.1016/j.fertnstert.2011.01.152.
Philibert P, Biason-Lauber A, Rouzier R, Pienkowski C, Paris F, Konrad D,Schoenle E, Sultan C. Identification and functional analysis of a new WNT4 genemutation among 28 adolescent girls with primary amenorrhea and müllerian ductabnormalities: a French collaborative study. J Clin Endocrinol Metab. 2008Mar;93(3):895-900. doi: 10.1210/jc.2007-2023.
Prunskaite-Hyyryläinen R, Shan J, Railo A, Heinonen KM, Miinalainen I, Yan W, Shen B, Perreault C, Vainio SJ. Wnt4, a pleiotropic signal for controlling cellpolarity, basement membrane integrity, and antimüllerian hormone expressionduring oocyte maturation in the female follicle. FASEB J. 2014 Apr;28(4):1568-81.doi: 10.1096/fj.13-233247.
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