Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Pseudovaginal Perineoscrotal Hypospadias
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