A Case of 17α-Hydroxylase Deficiency Syndrome Associated with Right Adrenal Tumor

Kazuya Ogawa The 3rd Division, Department of Internal Medicine, Faculty of Medicine, Kyoto University, Sakyo-ku, Kyoto, 606, Japan

Akira Hara The 3rd Division, Department of Internal Medicine, Faculty of Medicine, Kyoto University, Sakyo-ku, Kyoto, 606, Japan; The 1st Department of Internal Medicine, Fukui Medical School, Fukui, Japan

Satoru Tanabe The 3rd Division, Department of Internal Medicine, Faculty of Medicine, Kyoto University, Sakyo-ku, Kyoto, 606, Japan

Shigeki Tamori The 3rd Division, Department of Internal Medicine, Faculty of Medicine, Kyoto University, Sakyo-ku, Kyoto, 606, Japan

Haruyoshi Yoshida The 3rd Division, Department of Internal Medicine, Faculty of Medicine, Kyoto University, Sakyo-ku, Kyoto, 606, Japan

Chun Ho Pak The 3rd Division, Department of Internal Medicine, Faculty of Medicine, Kyoto University, Sakyo-ku, Kyoto, 606, Japan

Masato Matsunaga The 3rd Division, Department of Internal Medicine, Faculty of Medicine, Kyoto University, Sakyo-ku, Kyoto, 606, Japan; College of Medical Technology, Kyoto University,

Chuichi Kawai The 3rd Division, Department of Internal Medicine, Faculty of Medicine, Kyoto University, Sakyo-ku, Kyoto, 606, Japan

Haruyoshi Dodo The 3rd Division, Department of Internal Medicine, Faculty of Medicine, Kyoto University, Sakyo-ku, Kyoto, 606, Japan; Department of Radiology, Faculty of Medicine, Kyoto University,

Hiroshi Tanimura The 3rd Division, Department of Internal Medicine, Faculty of Medicine, Kyoto University, Sakyo-ku, Kyoto, 606, Japan; The 2nd Department of Surgery, Faculty of Medicine, Kyoto University,

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Abstract

A 35-year-old woman, who had been hypertensive for about 17 years and had lacked menarche, showed hypokalemia, low plasma cortisol and aldosterone levels, suppressed renin activity, and marked elevation of plasma corticosterone. The patient was diagnosed as having 17α-hydroxylase deficiency from functional studies. In addition, a right adrenal tumor was found by adrenal venography. Adrenal venous sampling showed that this tumor might be secreting corticosterone and possibly also deoxycorticosterone (DOC). The genotype was 46, XY, so she was diagnosed as having male pseudohermaphroditism. Right adrenalectomy and contralateral adrenal biopsy were done. The retained testicles were removed. Dexamethasone administration normalized the blood pressure and serum potassium. This is the first report of 17Q-hydroxylase deficiency with a right adrenal tumor.

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A Case of 17α-Hydroxylase Deficiency Syndrome Associated with Right Adrenal Tumor

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A Case of 17α-Hydroxylase Deficiency Syndrome Associated with Right Adrenal Tumor

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