Approach to the patient with 17α-hydroxylase/17, 20-lyase deficiency

Abstract

17α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare cause of congenital adrenal hyperplasia.The patient predominantly presents with low-renin hypertension,hypokalemia,lack of secondary sexual development,and in women with primary amenorrhea,in male with pseudohermaphroditism.We herewith analyse the clinical features of a case of 17OHD diagnosed by gene sequencing.And the etiology,clinical manifestations,genetic features,diagnosis and treatment for 17OHD were reviewed. Key words: 17α-hydroxylase/17, 20-lyase deficiency; CYP17A1 gene; Congenital adrenal hyperplasia; Diagnosis; Treatment