Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency
0.010 Biomarker disease BEFREE Clinical assessment, ultrasonography, karyotyping, endocrine evaluation including adrenal steroid concentrations, sex hormone-binding globulin test for androgen sensitivity, human chorionic gonadotropin stimulation with determination of testosterone and dihydrotestosterone concentrations to exclude 5 alpha-reductase deficiency, and molecular genetic analysis of the androgen receptor gene and the 5 alpha-reductase gene. 9329414 1997