Approach to the patient with cytochrome P450 oxidoreductase deficiency / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 68-71, 2017.
Article
Dans Chinois
| WPRIM
| ID: wpr-507021
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
langue:
Chinois
Texte intégral:
Chinese Journal of Endocrinology and Metabolism
Année:
2017
Type:
Article
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