Approach to the patient with 17α-hydroxylase/17, 20-lyase deficiency / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
; (12): 1120-1124, 2014.
Article
in Zh
| WPRIM
| ID: wpr-468473
Responsible library:
WPRO
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.
Full text:
1
Database:
WPRIM
Language:
Zh
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
2014
Document type:
Article