Konrade Ilze, Zavorikina Julija, Fridvalde Aija, Rots Dmitrijs, Kalere Ieva, Strumfa Ilze, Dambrova Maija, Gailite Linda
Department of Internal Medicine, Riga Stradins University, Riga, Latvia.
Department of Endocrinology, Riga East University Hospital, Riga, Latvia.
Front Endocrinol (Lausanne). 2019 Jan 17;9:795. doi: 10.3389/fendo.2018.00795. eCollection 2018.
Complete androgen insensitivity (CAIS) in 65-95% cases is caused by pathogenic allelic variants (mutations) in the gene encoding androgen receptor ( gene) and is characterized by female phenotype development with a male karyotype (46, XY). Patients are usually diagnosed during puberty and undergo gonadectomy due to increased testicular germ cell tumor risk. Only a few outcomes have been reported in older individuals with postponed gonadectomy. A 48-year-old CAIS patient presented with polyorchidism (four testes) without gonadal malignancies. Genetic testing identified a novel allelic variant in the gene [c.2141T>G (p.Phe805Cys)] causing the clinical symptoms. We have described a unique patient with CAIS and polyorchidism without malignancies in her late 40's bearing a novel likely pathogenic variant in the gene.
65%至95%的完全性雄激素不敏感（CAIS）病例是由雄激素受体编码基因中的致病性等位基因变异（突变）引起的，其特征是具有男性核型（46, XY）的女性表型发育。患者通常在青春期被诊断出来，由于睾丸生殖细胞瘤风险增加而接受性腺切除术。关于性腺切除术推迟的老年个体，仅有少数病例报告。一名48岁的CAIS患者表现为多睾症（四个睾丸）且无性腺恶性肿瘤。基因检测在该基因中鉴定出一种新的等位基因变异[c.2141T>G (p.Phe805Cys)]，导致了临床症状。我们描述了一名独特的40多岁晚期CAIS和多睾症患者，无恶性肿瘤，其基因中携带一种新的可能致病变异。
