sexual infantilism
We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries.
We identified two mutations in the <span class="gene" id="8265607-1-35-40">CYP19</span> gene responsible for aromatase deficiency in an 18-year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and <span class="disease" id="8265607-1-181-199">sexual infantilism</span>, and polycystic ovaries.