Wang Tianyi,Song Hongcheng,Zhang Weiping,et al.A case of female aromatase deficiency and literature review[J].Journal of Clinical Pediatric Surgery,,22():88-91.[doi:10.3760/cma.j.cn101785-202006063-017]
A case of female aromatase deficiency and literature review
- Keywords:
- Disorders of Sex Development; Cytochrome P450 Family 19; Genes; Recessive; Surgical Procedures; Operative; Child
- Abstract:
- Aromatase deficiency (AD) is a congenital estrogen synthesis disorder syndrome caused by CYP19A1 gene infunction mutation on chromosome 15q21.1.As one of the rare causes of 46,XX sexual dysplasia,aromatase deficiency has various clinical manifestations and is easy to be misdiagnosed.CYP19A1 gene test can confirm the diagnosis.Early diagnosis and estrogen replacement therapy can alleviate or improve the clinical symptoms of children.This paper presents the clinical data of a child with aromatase deficiency admitted to Beijing Children’s Hospital of Capital Medical University in January 2019.
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Memo
收稿日期:2020-06-26。
通讯作者:宋宏程,Email:songhch1975@126.com