完全性雄激素不敏感综合征合并膀胱瘘1例报道及文献回顾

发布时间：2018-03-11 16:38

本文选题：雄激素不敏感综合征　切入点：睾酮　出处：《北京大学学报(医学版)》2017年04期 　论文类型：期刊论文

【摘要】：雄激素不敏感综合征(androgen insensitivity syndrome,AIS)是一种罕见遗传病。由于雄激素受体(androgen receptor,AR)基因的突变导致其对雄激素产生抵抗及不应答,男性生殖系统出现不同程度异常发育并呈现出女性表型。手术切除隐睾及不同类型成形术可纠正畸形,激素替代治疗也是术后康复的关键。本文报告1例43岁患者,社会性别为女性,初因反复腹水及间断腹痛原因待查收入消化内科。体格检查、超声、核型分析、激素水平等检验检查符合完全性AIS。转入泌尿外科行隐睾切除术,术中发现膀胱顶壁紧邻脐中韧带与膀胱交界处有一瘘道,遂明确腹水原因,予切除并送病理。病理结果提示睾丸组织Sertoli细胞腺瘤及Leydig细胞巢状增生,膀胱瘘口周围组织非典型增生。出院后予雌激素替代治疗。睾丸切除术后雄激素合成障碍导致促性腺激素、雌孕激素水平发生变化,后续雌激素替代治疗联合心理辅导可稳定激素水平并提高生活质量。患者有可疑家族史,系谱图分析为X连锁隐性遗传,但尚不能明确。对于膀胱顶壁瘘的成因本文提出3种假说:直接手术损伤、癌症局部复发以及脐尿管异常发育,但脐尿管发育异常与本病是否存在相关性仍需进一步研究。
[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.
【作者单位】：北京大学人民医院泌尿外科;北京大学人民医院血管外科;
【分类号】：R596;R699

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