Abstrakt

Two cases of sisters-patients with congenital adrenal hyperplasia-21-hydroxylase deficiency

Zou Fang, Lei Shuihong, Hu Lei, Shen Yunfeng, Lai Xiaoyang

This is one case report that about two cases of sisters-patients with congenital adrenal hyperplasia-21- hydroxylase deficiency. The 2 patients in this group had significant masculine performance of women, without hypertension and electrolyte imbalance. The specific diagnostic index of 17-OHP was significantly increased, meanwhile testosterone, ACTH and 17 ketone steroids were significantly higher than the normal level. Adrenal CT showed bilateral adrenal hyperplasia, diagnosed as the simple masculine type in 2l-hydroxylase deficiency.