Case Report

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis

Figure 3

The adrenal steroid biosynthetic pathway: involved enzymes, hormones, and precursors. The “block” sites of hormone production in patients affected by 17α-hydroxylase/17,20-lyase deficiency are highlighted by the red stop signs.