17α-羟化酶/17,20碳链裂解酶缺陷症的研究进展及挑战

The development and challenges of 17α-hydroxylase/17,20 carbon chain lyase deficiency research

17α-羟化酶缺陷症是先天性肾上腺皮质增生症的一种罕见类型。以女性原发性闭经、男性假两性畸形、低肾素型高血压、低钾血症为主要临床表现。该病为罕见病且临床表现复杂,容易发生误诊。该文对17α-羟化酶缺陷症研究的发展与当前面临的挑战进行综述,有利于该病患者的明确诊断和及时干预。

17α-hydroxylase deficiency is a rare type of congenital adrenal hyperplasia.The main clinical manifestations are female primary amenorrhea,male pseudohermaphroditism,hypertension,and hypokalemia.This disease is a rare disease with complex clinical manifestations and is prone to misdiagnosis.This review focuses on the development and current challenges of 17α-hydroxylase deficiency research,which is conducive to the clear diagnosis and seasonable intervention of patients with this disease.