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Hypokalemic myopathy associated with 17-hydroxylase deficiency

A case report

Third Department of Internal Medicine, Miyazaki Medical College, Kiyotake, Miyazaki, Japan.

We studied a patient with hypokalemic myopathy associated with 17-hydroxylase deficiency. An 18-year-old high school student, who appeared to be a girl with poorly developed secondary sex characteristics, had generalized muscle weakness. The cause of muscle weakness proved to be hypokalemic myopathy confirmed by clinical findings and muscle biopsy. Endocrinologic study demonstrated 17-hydroxylase deficiency with male pseudohermaphroditism. The metabolic abnormality of this patient was corrected by the administration of glu-cocorticoid. The possibility of this rare disease has to be considered when we examine a patient who has hypokalemic myopathy associated with hypogonadism.

Address correspondence and reprint requests to Dr. Yazaki, Third Department of Internal Medicine, Miyazaki Medical College, 5200 Kihara, Kiyotake, Miyazaki, 889-16 Japan.

Accepted for publication June 17, 1981.

This article has been cited by other articles:

				H. Yamaguchi, M. Nakazato, M. Miyazato, K. Kangawa, and S. Matsukura A 5'-Splice Site Mutation in the Cytochrome P450 Steroid 17{alpha}-Hydroxylase Gene in 17{alpha}-Hydroxylase Deficiency J. Clin. Endocrinol. Metab., June 1, 1997; 82(6): 1934 - 1938. [Abstract] [Full Text] [PDF]