【广东会GDH基因靶向药物基因检测】鉴定导致患有原发性闭经的青春期女孩有效雄激素不敏感综合征的雄激素受体基因中罕见的 Ala871Glu 突变

基因肿瘤检测原理

学习肿瘤治疗的前沿研究英《Children (Basel)》在 2022 Dec 3;9(12):1900.发表了一篇题目为《Case Reports》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Aikaterini Kapama, Dimitrioses T Papadimitriou, George Mastorakos, Nikolaos F Vlahos, Maria Papagianni等完成。促进了肿瘤的正确治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤基因检测及靶向药物治疗研究关键词：

中国信息系统;派斯,雄激素受体,有效雄激素不敏感综合征,激素替代疗法,突变。

肿瘤治疗检测基因临床应用结果

有效雄激素不敏感综合征 (CAIS) 是一种罕见的遗传病，由雄激素受体 (AR) 基因突变导致目标问题对雄激素产生抗性，并在基因男性个体中出现女性表型。一名表型为女性的 16 岁患者因原发性闭经就诊于我们的诊所。她的临床评估显示女性外生殖器正常，Tanner III 乳房发育，阴毛和腋毛稀疏（Tanner II 期）。荷尔蒙评估显示促黄体激素 (LH)、睾酮和抗苗勒管激素 (AMH) 的浓度增加。图像研究未检测到子宫或性腺，但阴道盲，核型为 46，XY。这些发现表明 CAIS 的诊断，并且 AR 基因的基因检测揭示了胞嘧啶到腺嘌呤 (c.2612C>A) 的罕见致病性突变，在 AR 中的位置 871 (p.Ala871Glu) 将丙氨酸替换为谷氨酸，如前所述一次在两个成年姐妹中。患者接受了性腺切除术并接受了激素替代治疗。本研究扩展了 AR 突变数据库，显示了 CAIS 患者及时诊断、适当管理和随访的复杂性和重要性，强调了标准化方案的必要性。关键词：CAIS；派斯；雄激素受体；有效雄激素不敏感综合征；激素替代疗法；突变。

肿瘤发生与革命国际数据库描述：

Complete Androgen Insensitivity Syndrome (CAIS) is a rare genetic condition by mutations in the androgen receptor (AR) gene resulting in target issue resistance to androgens and a female phenotype in genetically male individuals. A 16-year-old phenotypically female individual presented to our clinic with primary amenorrhea. Her clinical evalsuation showed normal female external genitalia, Tanner III breast development and sparse pubic and axillary hair (Tanner stage II). Hormonal assessment revealed increased concentrations of Luteinizing Hormone (LH), Testosterone and Antimüllerian Hormone (AMH). Image studies detected no uterus or gonads, but a blind vagina and the karyotype was 46, XY. These findings suggested the diagnosis of CAIS, and genetic testing of the AR gene revealed a rare pathogenic mutation of cytosine to adenine (c.2612C>A) replacing alanine with glutamic acid at position 871 (p.Ala871Glu) in the AR, previously described once in two adult sisters. The patient underwent gonadectomy and received hormonal replacement therapy. This study expands the AR mutation database and shows the complexity and the importance of prompt diagnosis, proper management, and follow-up for CAIS patients, underlining the need for standardized protocols.Keywords: CAIS; PAIS; androgen receptor; complete androgen insensitivity syndrome; hormone replacement therapy; mutation.