74例46，XX性发育异常患儿性腺探查结果及分析

Gonadal exploration of patients with disorders of sex development （46, XX）

目的分析总结我院46，XX性发育异常患儿性腺探查结果并分析。方法回顾性分析2006年1月至2015年12月期间就诊我科染色体核型为46，XX的性发育异常患儿98例，其中24例因内分泌科明确诊断CAH无需行性腺探查。另74例46，XX DSD为明确诊断行手术探查性腺，并取病理活检。根据术中探查所见内生殖器分布情况以及术后患儿的病理结果汇报归纳总结74例46，XX患儿性腺探查情况并分析。结果除CAH外余74例46，XX DSD患儿中社会性别为：男48例，女26例。为明确诊断均行性腺探查术。其中单纯腹腔镜手术49例，腹腔镜联合开放手术12例，开放手术13例。性腺探查病理结果如下：双侧性腺均为卵睾25例（33．78％）；一侧性腺为卵巢，一侧为睾丸13例（17．57％）；一侧卵睾，一侧睾丸12例（16．22％）；一侧卵睾，一侧卵巢18例（24．32％）；双侧均为原始性腺2例（2．7％）；一侧原始性腺，一侧卵巢2例（2．7％）；一侧原始性腺，一侧睾丸2例（2．7％）。31例含有卵巢性腺患儿中14例卵巢分布在左侧，占45．16％。25例含有睾丸性腺的患儿中11例睾丸位于右侧，占44％。结论性腺探查及病理活检是46，XX DSD中除CAH外明确性发育障碍患儿的诊断及治疗方案重要的评估手段，对早期明确诊断、合理的选择性别及手术重建治疗具有重要的意义。

Objective To summarize the clinical characteristics and managing experiences of 46, XX disorders of sex development （DSD）. Methods Retrospective reviews were conducted for 98 patients of 46, XX, DSD between January 2006 to December 2015. Twenty four cases had a definite diagnosis of congenital adrenal hyperplasia （CAH） while another 74 cases were operated for gonadal exploration. Inside genital distribution and postoperative pothological results of 74 patients were summarized. Results Laparoscopy （n = 49）,open surgery （n = 13） and laparoscopy plus open surgery （n = 12） were performed. The pathological results were bilateral ovariotestis （n = 25, 33.78%）, unilateral ovary ＆ testicular （n = 13, 17. 57%）, unilateral ovariotestis ＆ testis （n = 12, 16. 22%）, unilateral ovariotestis ＆ ovary （n = 18,24. 32-）, bilateral original gonads （n = 2,2. 7%） ; unilateral primitive gonad ＆ ovary （n = 2,2.7%） and unilateral primitive gonad ＆ testicle （n = 2,2. 70%）. And 24 CAH patients underwent clitoris molding. Conclusions Thorough examinations should be conducted for patients with ambiguous genitalia, clitoromegaly and severe hypospadias with 46, XX chromosome. And gonadal exploration is essential.