Approach to the patient with cytochrome P450 oxidoreductase deficiency
10.3760/cma.j.issn.1000-6699.2017.01.012
- VernacularTitle:P450氧化还原酶缺陷症的临诊应对
- Author:
Jianli LIN
;
Junjie ZHENG
;
Min NIE
;
Jiangfeng MAO
;
Xi WANG
;
Xueyan WU
- Keywords:
P450 oxidoreductase deficiency;
P450 oxidoreductase;
Congenital adrenal hyperplasia;
Skeletal malformations;
17α-hydroxyprogesterone
- From:
Chinese Journal of Endocrinology and Metabolism
2017;33(1):68-71
- CountryChina
- Language:Chinese
-
Abstract:
[Summary] Cytochrome P450 oxidoreductase deficiency ( PORD) is a rare disease, which is a subtype of congenital adrenal hyperplasia. The predominant signs include no puberty development, infantile reproductive organs, ear deformities, and bone synostosis in skull or limbs. Here, we analyzed the clinical features of a case with PORD confirmed by gene sequencing. The pathology, genetic features, clinical manifestations, diagnosis and treatment for PORD were reviewed.
