A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome

A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome

Background: Complete androgen insensitivity syndrome (CAIS, OMIM; 300068) is a disorder of sex development with X-linked recessive inheritance. Cases of CAIS usually present as female phenotype, with primary amenorrhea and/or inguinal hernia. Family aggregation is a rare scenario.Methods: This study...

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Bibliographic Details
Main Authors: Leilei Ding, Duoduo Zhang, Fengxia Yao, Min Luo, Shan Deng, Qinjie Tian
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Genetics
Subjects:
androgen receptor
complete androgen insensitivity syndrome
gonadal malignancy
variant
X-linked recessive inheritance
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1140083/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1140083/full

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