Disease: 46, XY female ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.020 Biomarker disease BEFREE This is the first report of P450c17 deficiency presenting in a 46,XY female infant with hypotensive shock, a state exacerbated by the atypical absence of deoxycorticosterone elevation. 21822006 2011
CUI: C0432470
Disease: 46, XY female
46, XY female 		0.020 GeneticVariation disease BEFREE Here, we present the first molecular characterization of two novel mutations in CYP17A1 in a 15-year-old female Mexican mestizo 46,XY female with primary amenorrhea and lack of pubertal development and severe hypertension that manifested only after surgery. 19728179 2009