性发育异常患者性腺母细胞瘤四例临床分析

Clinical analysis of gonadoblastoma in 4 cases of disorders of sexual development

目的探讨性发育异常患者伴性腺母细胞瘤的临床特征与病因。方法回顾分析了1984年1月至2006年3月间在我院收治的4例性发育异常患者伴性腺母细胞瘤的临床表现、病理特征、治疗及预后。结果4例患者确诊为性腺母细胞瘤时的年龄平均22.5岁;表型均为发育幼稚的女性,无男性化表现,均以原发闭经为主诉;检查发现均含有Y染色体,卵泡刺激素(FSH)[(56.83±12.49)IU/L]和黄体生成素(LH)[(28.25±6.58)IU/L]显著升高,睾酮(T)[(2.85±3.33 nmol/L)]和雌二醇(E2)[(8.91±9.14)pmol/L]水平显著下降,提示性腺功能不良。4例患者全部行双侧性腺切除术。性腺均位于腹腔。性腺母细胞瘤左侧2例,右侧1例,双侧1例。1例随访2月,1例随访20年,无复发,另2例失访。结论性腺母细胞瘤是一种罕见的良性肿瘤,好发于性发育异常患者,治疗宜采取手术切除性腺,术后辅助性激素治疗,预后良好,其病因现尚不清楚。

Objective： To investigate the clinical features and etiology of gonadoblastoma in the patients with disorders of sexual development. Methods： Four cases of gonadoblastoma in disorders of sexual development admitted in PUMC Hospital between Jan 1984 and Mar 2006 were summarized and analyzed retrospectively. Results： The mean age of 4 cases at the time of diagnosis was 22.5 years. They all had undeveloped female phenotype without signs of virilism. The chief complaint was primary amenorrhea and they all had Y chromosome in karyotype （3 cases of 46,XY and 1 case of 45,XO/46,XY）. FSH （56.83±12.49） IU/L and LH （28. 25±6. 58） IU/L were markedly increased while testosterone （2. 85±3. 33）nmol/L and estrodiol （8.91±9.14）pmol/L were clearly decreased, indicating gonadal dysplasia. They all had bilateral gonadectomy and all gonads were located in abdomen. Gonadoblastoma occurred unilaterally in 3 cases （1 in right gonad, 2 in left gonad） and bilaterally in 1 case. Two patients were followed up for 2 months and 20 years respectively without relapse, and two lost follow-up. Conclusions： Gonadoblastoma is a rare benign tumor often associated with disorders of sexual development, especially in the patients with Y chromosome. These patients should have bilateral gonadectomy and hormone therapy after the operation. The prognosis of gonadoblastoma is good. And the etiology is not yet clear.