| 摘要: |
| 【】 目的 探讨48, XXYY综合征合并代谢综合征患者的临床特征以及相关机制,提高对该罕见疾病的深入了解和认识。方法 回顾性分析1例合并代谢综合征的48, XXYY综合征患者的临床表现、实验室检查结果、影像学特点,并进行文献复习。结果 该48, XXYY 综合征患者身材高大、四肢纤细、腹型肥胖,血清促卵泡激素(FSH)和黄体生成素(LH)水平升高,睾酮和游离睾酮指数(FAI)降低,睾丸体积小,无精症,合并2型糖尿病、脂代谢紊乱和代谢相关脂肪性肝病。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,常合并的严重代谢紊乱。我们提出48, XXYY 综合征患者应早期筛查代谢综合征相关指标,并实施针对性的综合管理。 |
| 关键词: 48, XXYY综合征 代谢综合征 糖尿病 性腺功能减退 |
| DOI： |
| 分类号: |
| 基金项目:国家自然科学基金面上项目(81870349) |
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| A Case of 48, XXYY Syndrome Complicated with Metabolic Syndrome |
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陶珊珊
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Nanjing First Hospital
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| Abstract: |
| 【】 Objective To investigate the clinical characteristics and underlying mechanisms of 48, XXYY syndrome complicated with metabolic syndrome, and to improve awareness and understanding of this rare disease. Methods The clinical manifestations, laboratory findings, and imaging characteristics of one patient with 48, XXYY syndrome complicated with metabolic syndrome were retrospectively analyzed, and a literature review was conducted. Results The patient with 48, XXYY syndrome presented with tall stature, slender limbs, and central obesity. Serum levels of follicle?stimulating hormone (FSH) and luteinizing hormone (LH) were elevated, while testosterone and free androgen index (FAI) were decreased. The patient also had small testicular volume, azoospermia, and was complicated with type 2 diabetes, dyslipidemia, and metabolic dysfunction?associated fatty liver disease (MAFLD). Conclusion Patients with 48, XXYY syndrome exhibit hypergonadotropic hypogonadism and are often complicated with severe metabolic disorders. We suggest that early screening for metabolic syndrome?related indicators and targeted comprehensive management should be implemented in patients with 48, XXYY syndrome. |
| Key words: 48, XXYY syndrome metabolic syndrome diabetes mellitus hypogonadism |
