【佳學(xué)基因靶向藥物基因檢測(cè)】鑒定導(dǎo)致患有原發(fā)性閉經(jīng)的青春期女孩有效雄激素不敏感綜合征的雄激素受體基因中罕見(jiàn)的 Ala871Glu 突變

基因腫瘤檢測(cè)原理

學(xué)習(xí)腫瘤治療的前沿研究英《Children (Basel)》在?2022 Dec 3;9(12):1900.發(fā)表了一篇題目為《Case Reports》腫瘤靶向藥物治療基因檢測(cè)臨床研究文章。該研究由Aikaterini Kapama,?Dimitrios T Papadimitriou,?George Mastorakos,?Nikolaos F Vlahos,?Maria Papagianni等完成。促進(jìn)了腫瘤的正確治療與個(gè)性化用藥的發(fā)展，進(jìn)一步強(qiáng)調(diào)了基因信息檢測(cè)與分析的重要性。

腫瘤基因檢測(cè)及靶向藥物治療研究關(guān)鍵詞：

中國(guó)信息系統(tǒng);派斯,雄激素受體,有效雄激素不敏感綜合征,激素替代療法,突變。

腫瘤治療檢測(cè)基因臨床應(yīng)用結(jié)果

有效雄激素不敏感綜合征 (CAIS) 是一種罕見(jiàn)的遺傳病，由雄激素受體 (AR) 基因突變導(dǎo)致目標(biāo)問(wèn)題對(duì)雄激素產(chǎn)生抗性，并在基因男性個(gè)體中出現(xiàn)女性表型。一名表型為女性的 16 歲患者因原發(fā)性閉經(jīng)就診于我們的診所。她的臨床評(píng)估顯示女性外生殖器正常，Tanner III 乳房發(fā)育，陰毛和腋毛稀疏（Tanner II 期）。荷爾蒙評(píng)估顯示促黃體激素 (LH)、睪酮和抗苗勒管激素 (AMH) 的濃度增加。圖像研究未檢測(cè)到子宮或性腺，但陰道盲，核型為 46，XY。這些發(fā)現(xiàn)表明 CAIS 的診斷，并且 AR 基因的基因檢測(cè)揭示了胞嘧啶到腺嘌呤 (c.2612C>A) 的罕見(jiàn)致病性突變，在 AR 中的位置 871 (p.Ala871Glu) 將丙氨酸替換為谷氨酸，如前所述一次在兩個(gè)成年姐妹中?；颊呓邮芰诵韵偾谐g(shù)并接受了激素替代治療。本研究擴(kuò)展了 AR 突變數(shù)據(jù)庫(kù)，顯示了 CAIS 患者及時(shí)診斷、適當(dāng)管理和隨訪的復(fù)雜性和重要性，強(qiáng)調(diào)了標(biāo)準(zhǔn)化方案的必要性。關(guān)鍵詞：CAIS；派斯；雄激素受體；有效雄激素不敏感綜合征；激素替代療法；突變。

腫瘤發(fā)生與革命國(guó)際數(shù)據(jù)庫(kù)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 evaluation 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.