Study progress of aromatase deficiency
10.3760/cma.j.issn.2095-428X.2017.20.004
- VernacularTitle:芳香化酶缺乏症研究进展
- Author:
Baosheng YU
1
Author Information
1. 210003,南京医科大学第二附属医院小儿内分泌科
- Keywords:
Aromatase;
Gene mutation;
Aromatase deficiency;
Clinical manifestation;
Diagnosis;
Treatment
- From:
Chinese Journal of Applied Clinical Pediatrics
2017;32(20):1533-1539
- CountryChina
- Language:Chinese
-
Abstract:
Human aromatase deficiency is a rare congenital estrogen deprivation syndrome that is caused by loss-of-function mutations in CYP19A1 gene,which encodes aromatase.Now,the structure and tissue expression of CYP19A1 gene,the critical role of aromatase in catalyzing estrogen biosynthesis,and the clinical manifestation,diagnosis and treatment of aromatase deficiency in men as well as in women are reviewed.
