目的 总结呈现特纳综合征表型的45，X/46，XY性发育异常患儿的临床特点、青春期发育状况、性腺肿瘤发生情况及转归。方法 回顾性分析2012年1月至2023年1月于河南省儿童医院就诊的呈现特纳综合征表型的45，X/46，XY性发育异常患儿的临床资料。结果 15例患儿均为女性表型，伴生长发育迟缓，有颈蹼、肘外翻等典型特纳综合征临床特征；3例呈现自发性乳房发育，1例自发性月经初潮，最终均出现性腺发育不良。染色体中Y染色体嵌合比率为5%~85%。10例进行SRY基因检测，均为阳性。7例性腺切除后进行病理检查，发现3例性腺肿瘤（1例单侧性腺母细胞瘤、1例无性细胞瘤和1例原位生殖细胞瘤），其中1例原位生殖细胞瘤在诊断时已恶变，诊断年龄为4.3岁。结论 45，X/46，XY性发育异常部分患儿可呈现类似特纳综合征的临床特征，性腺肿瘤发生率和恶变率高，恶变年龄小，临床上对此应予以充分的重视，及时评估手术介入的必要性。

Objective To summarize the clinical features, puberty development, gonadal neoplasia and prognosis of 15 children with 45, X/46, XY disorders of sex development (DSD) presenting Turner syndrome phenotype. Methods The clinical data of 15 children with 45, X/46, XY DSD presenting Turner syndrome phenotype in Henan Children's Hospital from January 2012 to January 2023 were retrospectively analyzed. Results All the 15 patients presented with the female phenotype and had growth retardation. They had typical clinical signs of Turner syndrome, such as neck web and cubitus valgus. Spontaneous breast development occurred in 3 patients, spontaneous menarche occurred in 1 patient, and gonadal dysgenesis eventually occurred in all patients. The Y chromosome mosaicism rate was 5%-85%. SRY gene detection was performed in 10 patients, and all of them were positive. Pathological examination of 7 patients after gonadectomy revealed gonadal tumors in 3 patients (1 case of unilateral gonadoblastoma, 1 case of dysgerminoma, and 1 case of insitu germ cell tumor). One case of insitu germ cell tumor was malignant at the time of diagnosis, and the age of diagnosis was 4.3 years. Conclusions Patients with 45, X/46, XY DSD may exhibit clinical features reminiscent of Turner syndrome. They have a higher incidence and risk of malignant transformation of gonadal tumors, and this transformation tends to occur at a younger age. This should be given full attention in clinical practice, and the necessity of surgical intervention should be evaluated promptly.