- Compound heterozygous mutations (PHE53/54DEL and HIS373LEU) of the P450c17 gene result in a 17alpha-hydroxylase/17,20-lyase deficient male pseudohermaphrodite with unambiguous external genitalia. Uehara, S., Sato, J., Nishiyama, Y., Matsuzaki, S., Funato, T., Murotsuki, J., Yaegashi, N., Okamura, K., Yajima, A. Tohoku J. Exp. Med. (2000)