148 17-KETOREDUCTASE AND PARIAL ADRENAL 3β-HYDROXYSTEROID-DEHYDROGENASE (3β-HSD) DEFICIENCY

A patient with female phenotype at birth, a history of bilateral inguinal hernia and karyotype 46, XY was considered to have MPH due to testicular feminization syndrome until 13 years of age when she developed clitoromegaly and underwent gonadectomy, suggesting a coexisting partial adrenal 3β-HSD deficiency.