Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects Luciane Carneiro de Carvalho,

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Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects Luciane Carneiro de Carvalho, M.D., Vinicius Nahime Brito, M.D., Ph.D., Regina Matsunaga Martin, M.D., Ph.D., Aline Machado Zamboni, Ph.D., Larissa Garcia Gomes, M.D., Ph.D., Marlene Inácio, Ph.D., Livia Mara Mermejo, M.D., Ph.D., Fernanda Coeli-Lacchini, Ph.D., Virginia Ribeiro Teixeira, M.D., Fabrícia Torres Gonçalves, M.D., Alexandre José Faria Carrilho, M.D., Ph.D., Kenny Yelena Del Toro Camargo, M.D., Gabriela Paula Finkielstain, M.D., Ph.D., Giselle Fernandes Taboada, M.D., Elaine Maria Frade Costa, M.D., Ph.D., Sorahia Domenice, M.D. Ph.D., Berenice Bilharinho Mendonca, M.D., Ph.D. Fertility and Sterility Volume 105, Issue 6, Pages 1612-1619 (June 2016) DOI: 10.1016/j.fertnstert.2016.02.008 Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Pedigrees of families with CYP17A1 mutations. Squares indicate male family members, circles female family members, black symbols clinically affected family members, and arrows the proband in each family. The CYP17A1 genotype is shown for family members whose DNA was available for genetic studies. NM = nonmutated. The 46,XY patient was raised as a female. Fertility and Sterility 2016 105, 1612-1619DOI: (10.1016/j.fertnstert.2016.02.008) Copyright © 2016 American Society for Reproductive Medicine Terms and Conditions