Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: Case report and literature review

@article{Sugino2006GenotypingOC,
  title={Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: Case report and literature review},
  author={Yoshio Sugino and Takeshi Usui and Kazutoshi Okubo and Kanji Nagahama and Toshiaki Takahashi and Haruna Okuno and Hiroshi Hatayama and Osamu Ogawa and Akira Shimatsu and Hirohiko Nishiyama},
  journal={Journal of Assisted Reproduction and Genetics},
  year={2006},
  volume={23},
  pages={377-380}
}
We describe here two infertile male patients who were referred to our hospital with azoospermia at the ages of 33 and 30 years, respectively. Hormonal examinations led to a diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in both patients. Genotyping revealed that the patients had a homozygous I172N and a heterozygous compound I172N/IVS2-13A/C>G mutation, respectively. Glucocorticoid replacement therapy succeeded in improving the seminal status of one patient… CONTINUE READING