MYRF gene variant resulted in 46, XY disorders of sex development with aortic coarctation
10.3760/cma.j.cn311282-20220426-00263
- VernacularTitle:MYRF基因变异致46，XY性发育异常合并主动脉缩窄
- Author:
Kexin JIN
1
;
Zhe SU
;
Yanhua JIAO
;
Lili PAN
;
Shumin FAN
;
Jinjin XIE
Author Information
1. 深圳市儿童医院性发育异常多学科协作组，深圳 518038
- Keywords:
46, XY;
Disorders of sex development;
MYRF gene;
Variant;
Coarctation of the aorta
- From:
Chinese Journal of Endocrinology and Metabolism
2023;39(12):1074-1079
- CountryChina
- Language:Chinese
-
Abstract:
To summarize the clinical manifestations of a case with 46, XY sex development disorder caused by myelin regulatory factor(MYRF) gene mutation and review the literature to deepen the specialists′ understanding of the clinical disease spectrum resulting from MYRF gene variations. The child had a female phenotype with mild masculinity, chromosome 46, XY, sex-determining region of Y gene(SRY gene) positive, laboratory tests were consistent with primary hypogonadism, ultrasound did not detect the gonads, but the residual reproductive tract was visible, and echocardiography suggested coarctation of the aorta, MYRF gene c. 2518C>T(p.R840*) heterozygous variant. The father did not carry this variant. The mother was untraceable, and genetic testing had not been completed. It was analyzed as pathogenic variation according to American College of Medical Genetics and Genomics(ACMG) guidelines. Sixteen cases of disorders of sex development caused by MYRF gene variation reported from 2018 to 2021 were reviewed, MYRF gene variants, 46, XY, and 46, XX individuals can be pathogenic, can affect the gonad and reproductive tract at the same time, and can also affect multiple systems. In this case, the patient presents with 46, XY sex development disorder due to MYRF gene mutation, accompanied by rare cardiovascular complications. When encountering 46, XY primary hypogonadism without well-developed Müllerian duct structures, this condition should be considered. Following confirmation, a comprehensive assessment of multi-organ function is necessary.
