Approach to the patient with 17α-hydroxylase/17, 20-lyase deficiency
10.3760/cma.j.issn.1000-6699.2014.12.017
- VernacularTitle:17α-羟化酶/17,20-裂解酶缺陷症的临诊应对
- Author:
Wei LIN
;
Qiuxuan GUO
;
Gang CHEN
;
Lixiang LIN
;
Huibin HUANG
- Publication Type:Journal Article
- Keywords:
17α-hydroxylase/17,20-lyase deficiency;
CYP17A1 gene;
Congenital adrenal hyperplasia;
Diagnosis;
Treatment
- From:
Chinese Journal of Endocrinology and Metabolism
2014;30(12):1120-1124
- CountryChina
- Language:Chinese
-
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.
