Aromatase deficiency caused by mutation of CYP19A1 gene: A case report.
10.11817/j.issn.1672-7347.2022.210401
- Author:
Hongli LI
1
;
Songbo FU
2
;
Ruchun DAI
3
,
4
;
Zhifeng SHENG
3
,
4
;
Wei LIU
3
,
5
Author Information
1. Department of Endocrinology, First Hospital of Lanzhou University, Lanzhou 730000. lihl19@lzu.edu.cn.
2. Department of Endocrinology, First Hospital of Lanzhou University, Lanzhou 730000.
3. National Clinical Research Center for Metabolic Diseases
4. Department of Metabolism and Endocrinology, Second Xiangya Hospital, Central South University, Changsha 410011, China.
5. Department of Metabolism and Endocrinology, Second Xiangya Hospital, Central South University, Changsha 410011, China. liuwei_13510@163.com.
- Publication Type:Journal Article
- Keywords:
CYP19A1 gene;
aromatase deficiency;
estrogen deficiency
- MeSH:
46, XX Disorders of Sex Development/genetics*;
Adult;
Aromatase/metabolism*;
Female;
Gynecomastia/genetics*;
Humans;
Infertility, Male;
Male;
Metabolism, Inborn Errors;
Mutation;
Pregnancy
- From:
Journal of Central South University(Medical Sciences)
2022;47(6):794-800
- CountryChina
- Language:English
-
Abstract:
Aromatase deficiency (AD) is a rare autosomal recessive genetic disease caused by loss-of-function mutations in aromatase gene (CYP19A1), leading to congenital estrogen deficiency syndrome. Both mothers of AD patients during pregnancy and female AD fetus show virilization, while male patients are usually diagnosed in adulthood due to continued height increase and metabolic abnormalities. In 2019, a patient with AD was admitted in the Second Xiangya Hospital. The patient was a 37-year-old adult male who continued to grow linearly after adulthood. His estradiol was below the measurable line, the follicle-stimulating hormone (FSH) increased, bone age delayed, epiphysis unfused, and the bone mass reduced. CYP19A1 gene detection showed that c.1093C>T, p.R365W was homozygous mutation. This disease is rare in clinic. Clinicians need to raise awareness of the disease for early diagnosis and treatment to improve the long-term prognosis of patients.
