48,XXYY综合征1例

A case report of 48,XXYY syndrome

目的探讨48,XXYY综合征患者的致病机制和临床特征,提高对此罕见疾病的认识。方法回顾性分析1例确诊48,XXYY综合征患者的临床信息、实验室检查结果、影像学特点,并进行文献复习。结果该48,XXYY综合征患者血清促卵泡激素(FSH)和黄体生成素(LH)水平升高,雌二醇(E2)和游离睾酮指数(FAI)降低,BMI偏低,睾丸体积小,射精功能正常,精液未见精子。患者文化程度偏低,脾气暴躁,害羞。结论48,XXYY综合征患者都有高促性腺激素性性腺功能减退症、无精子症和睾丸体积小,身材较高。普遍存在智力障碍,常有自闭症谱系障碍,在诊断时还应进行全面的神经发育评估,并联合多学科进行治疗。

Objective To explore the pathogenic mechanisms and clinical features of patients with 48,XXYY syndrome,and deepen the understanding of the diagnosis and treatment of this rare disease.Methods The clinical information,laboratory results and imaging features were analyzed retrospectively based on a case of 48,XXYY syndrome,and the literature was reviewed.Results The patient with 48,XXYY syndrome were(was)high levels of FSH and LH,and low level of E2and FAI,low BMI,small volume of the testis,normal ejaculatory function but azoospermia.The patient is low-educated,irritability,and shy.Conclusion The 48,XXYY syndrome patients had hypergonadotropic hypogonadism,azoospermia,small volume of the testis,and taller stature.Intellectual disability,often have autism spectrum disorder,a comprehensive neurodevelopmental evaluation is warranted at the time of diagnosis and combined with multidisciplinary treatment.