本文選題：雄激素不敏感綜合征　切入點(diǎn)：睪酮　出處：《北京大學(xué)學(xué)報(bào)(醫(yī)學(xué)版)》2017年04期 　論文類型：期刊論文

【摘要】：雄激素不敏感綜合征(androgen insensitivity syndrome,AIS)是一種罕見(jiàn)遺傳病。由于雄激素受體(androgen receptor,AR)基因的突變導(dǎo)致其對(duì)雄激素產(chǎn)生抵抗及不應(yīng)答,男性生殖系統(tǒng)出現(xiàn)不同程度異常發(fā)育并呈現(xiàn)出女性表型。手術(shù)切除隱睪及不同類型成形術(shù)可糾正畸形,激素替代治療也是術(shù)后康復(fù)的關(guān)鍵。本文報(bào)告1例43歲患者,社會(huì)性別為女性,初因反復(fù)腹水及間斷腹痛原因待查收入消化內(nèi)科。體格檢查、超聲、核型分析、激素水平等檢驗(yàn)檢查符合完全性AIS。轉(zhuǎn)入泌尿外科行隱睪切除術(shù),術(shù)中發(fā)現(xiàn)膀胱頂壁緊鄰臍中韌帶與膀胱交界處有一瘺道,遂明確腹水原因,予切除并送病理。病理結(jié)果提示睪丸組織Sertoli細(xì)胞腺瘤及Leydig細(xì)胞巢狀增生,膀胱瘺口周圍組織非典型增生。出院后予雌激素替代治療。睪丸切除術(shù)后雄激素合成障礙導(dǎo)致促性腺激素、雌孕激素水平發(fā)生變化,后續(xù)雌激素替代治療聯(lián)合心理輔導(dǎo)可穩(wěn)定激素水平并提高生活質(zhì)量�；颊哂锌梢杉易迨�,系譜圖分析為X連鎖隱性遺傳,但尚不能明確。對(duì)于膀胱頂壁瘺的成因本文提出3種假說(shuō):直接手術(shù)損傷、癌癥局部復(fù)發(fā)以及臍尿管異常發(fā)育,但臍尿管發(fā)育異常與本病是否存在相關(guān)性仍需進(jìn)一步研究。
[Abstract]:Androgen insensitivity syndrome is a rare genetic disease. The mutation of androgen receptor ARA gene causes its resistance to androgen and nonresponse to androgen. The male reproductive system has different degrees of abnormal development and female phenotype. Surgical excision of cryptorchidism and different types of angioplasty can correct malformation. Hormone replacement therapy is also the key to postoperative rehabilitation. The social sex is female, the primary cause of recurrent ascites and intermittent abdominal pain is admitted to the Department of Gastroenterology, physical examination, Ultrasound, karyotype Analysis, hormone level and so on. A fistula was found in the parietal wall of the bladder adjacent to the junction of the middle umbilical ligament and the bladder, and the cause of ascites was identified, which was resected and sent to pathology. The pathological results indicated that the testis had Sertoli cell adenoma and Leydig cell nest hyperplasia. Atypical hyperplasia of tissues around the mouth of bladder fistula. Estrogen replacement therapy after discharge. Androgen synthesis disorder after orchiectomy causes changes in gonadotropin, estrogen and progesterone levels. The follow-up estrogen replacement therapy combined with psychological counseling can stabilize hormone levels and improve the quality of life. Three hypotheses about the causes of bladder top wall fistula: direct surgical injury, local recurrence of cancer and abnormal development of urachal canal, but the relationship between the abnormal development of urachal canal and this disease still needs to be further studied.
【作者單位】： 北京大學(xué)人民醫(yī)院泌尿外科;北京大學(xué)人民醫(yī)院血管外科;
【分類號(hào)】：R596;R699

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