Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8476743 | Molecular and Cellular Endocrinology | 2016 | 9 Pages |
Abstract
Two novel CYP19A1 mutations were identified in a Chinese girl born with ambiguous genitalia and severe maternal virilization during pregnancy. Maternal virilization should prompt consideration of aromatase deficiency, preventing unnecessary interventions in pregnancy. This study broadens the spectrum of phenotype and genetic mutations of this rare disorder.
Keywords
DHEA-S17OHPPORCAHAromatase deficiencyCYP19A1ACTHPRL17-hydroxyprogesteroneDisorder of sexual developmentEstrogenandrostenedioneHCGPregnancytestosteroneDeliveryEnzyme activitywild-typeadrenocorticotropic hormonefollicle-stimulating hormoneluteinizing hormoneGrowth hormoneFSHCongenital adrenal hyperplasiaVirilizationProlactinProgesteronehuman chorionic gonadotropin
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Cell Biology
Authors
Wen-Jiao Zhu, Tong Cheng, Hui Zhu, Bing Han, Meng-Xia Fan, Ting Gu, Shuang-Xia Zhao, Yang Liu, Kai-Xiang Cheng, Huai-Dong Song, Jie Qiao,