17α-hydroxylase/17, 20-lyase Deficiency: 1 Case Report And Literature Review

Background17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia leading to hypokalemic, hypertension and sexual abnormalities such as pseudohermaphroditism in males, and sexual infantilism in females. Here, we report a case of 17α-hydroxylase/17,20 -lyase deficiency and review related literature about it, inorder to improve the levels of diagnosis and treatment in this disease. ObjectiveReport a case of 17α-hydroxylase/17,20-lyase deficiency and review related literature about it, inorder to improve the levels of diagnosis and treatment in this disease.MethodsA case of 17α-hydroxylase/17,20-lyase deficiency is reported and the related literature is reviewed. Analysis of its clinical features,biochemical data,hormone level and treatment are made.ResultsA 30-year-old patient with 17α-hydroxylase/17,20-lyase deficiency who had a female phenotype but male karyotype (46,xy). The patient had a typical clinical presentation of hypertension and hypokalemia. The cortisol, sex hormone, plasma renin activity and aldosterone level were decreased, but progesterone was increased. After three months following up, the data showed that after a treatment of Prednisolone and Tibolone, a good control of hypertension and hypokalemia correction could be achieved.Conclusions17α-hydroxylase/17,20-lyase deficiency is rare in clinical work. We must take it into consideration if a patient suffers from hypertension, hypokalemia and sexual abnormalities. The treatment with replacement of glucocorticoid can achieve good control of hypertension and hypokalemia correction.