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。
Androgen insensitivity syndrome(AIS) is a very uncommon genetic disorder that results from the resistance of androgen receptor(AR) to androgen,which influences the formation of the male genitalia and in turn presents with female phenotype. Surgical resection of undesceaded testicle and different kinds of genitoplasty are crucial methods to correct the deformity of reproductive system,as well as hormone replacement therapy,which is an essential therapy for postoperational rehabilitation in AIS patients. A 43-year-old patient,who was socially female,was first admitted to gastroenterology department due to recurrent ascites and occasional abdominal pain with unknown origin. Taking physical examination,ultrasonography,karyotype analysis and sex hormone levels into consideration,the overall manifestations revealed the typical clinical features of complete androgen insensitivity syndrome. After that she was transferred to urology department for laparoscopic gonadectomy. During the surgery,doctors found that there was a vesical fistula on the upper wall near the conjunction between the bladder and ligamenta umbilicale medium,which explained the recurrent ascites for more than 4 years. After resecting the testicles and the tissues around the vesical fistula for histopathology,the result suggested Sertoli cell adenoma,hyperplastic Leydig cells and urothelium atypical hyperplasia. Hormone replacement therapy was given right after discharge. The hormone levels of follicle-stimulating hormone,luteinizing hormone,estradiol and progesterone were modulated by the dysfunction of androgen production after gonadectomy and hormone replacement therapy together with psychotherapy could stabilize her hormone levels and improve the quality of her life. The patient was suspicious of AIS family history and the pedigree was made to analyze her family which was possibly X-linked recessive pattern. We propose three possible hypotheses of the fistula,which are direct surgical injury,recurrence of bladder cancer and congenital urachal anomalies. But whether it is relevant between urachal anomalies and AIS is yet to be discovered.
出处
《北京大学学报(医学版)》
CAS
CSCD
北大核心
2017年第4期724-729,共6页
Journal of Peking University:Health Sciences
关键词
雄激素不敏感综合征
睾酮
睾丸切除术
膀胱瘘
脐尿管
Androgen-insensitivity syndrome
Testosterone
Orchiectomy
Urinary bladder fistula
Urachus