hrp0084p3-793 | DSD | ESPE2015

A Novel Mutation of the AR Gene Causes Androgen Insensitivity Syndrome: A Case Report

longjiang Zhang , xionghui Xian , shufeng Tian , xia Liu , zhe Su

Background: A 8-year-old Chinese girl was referred by the endocrinologist of our hospital because of ambiguous external genitalia.Physical examination revealed breast and axillary hair and pubic hair at Tanner stage 1, There had two mass located within two side of inguinal regions,labia fusion, the size of clitoris was 2.0×1.0 cm, there was a vaginal opening. US images revealed a solid nodile suggestive of testicular tissue located in both inguinal regions. The MRI exam c...

hrp0095p1-324 | Growth and Syndromes | ESPE2022

The diagnosis of aortic dilatation in Chinese children and adolescents with Turner syndrome

Wei Su , Longwei Sun , Zhuoguang Li , Xia Liu , Longjiang Zhang , Xiu Zhao , Shumin Fan , Boning Li , Ying Xie , Weiwei Xiao , Zhe Su

Objective: Patients with Turner syndrome (TS) have an increased risk of aortic dilatation (AD), which is associated with higher mortality. The diagnosis of AD in children is more difficult than that in adults. This study aimed to investigate the application of cardiovascular assessment criteria in diagnosing AD in Chinese children and adolescents with TS.Methods: In this retrospective study, a comprehensive cardiovascula...

hrp0095p1-523 | Growth and Syndromes | ESPE2022

The diagnosis of aortic dilatation in Chinese children and adolescents with Turner syndrome

Wei Su , Longwei Sun , Zhuoguang Li , Xia Liu , Longjiang Zhang , Xiu Zhao , Shumin Fan , Boning Li , Ying Xie , Weiwei Xiao , Zhe Su

Objective: Patients with Turner syndrome (TS) have an increased risk of aortic dilatation (AD), which is associated with higher mortality. The diagnosis of AD in children is more difficult than that in adults. This study aimed to investigate the application of cardiovascular assessment criteria in diagnosing AD in Chinese children and adolescents with TS.Methods: In this retrospective study, a comprehensive cardiovascula...