AUTHOR=Jiang Lu , Jia Peng , Duan Baofeng , Zhang Yan 

TITLE=Case Report: Surgery and genetic analysis of a complete androgen insensitivity syndrome family with testicular malignant tumors

JOURNAL=Frontiers in Genetics

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1048600

DOI=10.3389/fgene.2023.1048600

ISSN=1664-8021

ABSTRACT=<p><bold>Introduction:</bold> Complete androgen insensitivity syndrome (CAIS) is a rare sex development disorder that results from X-linked androgen receptor gene mutations. Malignant transformation of the gonads is the most feared complication in postpubertal patients.</p><p><bold>Methods:</bold> In the current report, primary amenorrhea, infertility, and groin mass were symptoms described by a 58-year-old woman and his younger sister. Their two aunts, who shared the same clinical traits, passed away for an unknown reason.</p><p><bold>Results:</bold> After gonadectomy, both patients were diagnosed with seminoma and an extratesticular benign tumor, and the elder sister suffered from breast cancer about a year after the operation. The diagnosis of CAIS was verified by whole-exome sequencing (WES), in which an uncommon mutation (c.2197G&gt;A) in the AR gene was identified.</p><p><bold>Discussion:</bold> This is the first family report of CAIS with germ cell tumors. The identified AR gene mutation based on WES can expand the understanding of CAIS.</p>