低血钾性肌病伴有17α—羟酶缺乏,主要表现为盐皮质素过剩和性腺机能低下的一种少见的先天性肾上腺和性腺疾病。临床特征为高血压,低血钾,碱中毒和性功能异常。患者幼年时身体及精神发育正常。青春期第二性征未出现、无月经。青年期有严重贫血、多尿、烦渴。1980年1月20日(18岁)出现腰及大腿肌肉疼 Hypokalemic myopathy associated with 17α-hydroxylase deficiency, mainly as a rare form of idiopathic adrenal and gonadal diseases with excess of cortisone and hypogonadism. Clinical features of hypertension, hypokalemia, alkalosis and sexual dysfunction. Patients with normal physical and mental development at infancy. Adolescent secondary sexual characteristics did not appear, no menstruation. Adolescent have severe anemia, polyuria, polydipsia. January 20, 1980 (18 years old) appeared waist and thigh muscle pain