PDF(Pubmed)
Abstract：
Familial hCG syndrome is a rare and benign cause of elevated serum beta human chorionic gonadotropin (hCG). We present here a case of familial hCG syndrome diagnosed in a Hong Kong Chinese family, which we believe to be the first reported in Chinese. A 38-year-old woman presented with incidental finding of persistently elevated hCG, analytically confirmed both in urine and blood. Extensive radiological and biochemical work-up were performed but were negative for pregnancy and malignancy. Testing of another asymptomatic family member revealed unexplained elevation of serum hCG, confirming the diagnosis of familial hCG syndrome. Knowledge and awareness of this entity among clinicians are important to avoid unnecessary investigations and treatment in affected families.
摘要：
家族性hCG综合征是血清β人绒毛膜促性腺激素（hCG）升高的罕见且良性原因。我们在这里介绍一个在香港华人家庭中诊断出的家族性hCG综合征，我们认为这是第一个用中文报道的。一名38岁的女性偶然发现持续升高的hCG，在尿液和血液中分析证实。进行了广泛的放射学和生化检查，但对妊娠和恶性肿瘤均呈阴性。对另一个无症状的家庭成员的测试显示血清hCG的原因不明的升高，确认家族性hCG综合征的诊断。临床医生对该实体的了解和认识对于避免在受影响的家庭中进行不必要的调查和治疗非常重要。
