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Case Report: The first familial hCG syndrome in a Chinese family

Ling-Yin Hung1,2, Mei-Tik Leung1, Toby Chun-Hei Chan1

  • 1Chemical Pathology Laboratory, Department of Pathology, Queen Elizabeth Hospital, Kowloon, Hong Kong.

F1000Research
|July 12, 2021
PubMed

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.

Keywords:
autosomal inheritanceectopic pregnancyfamilial hCG syndromegestational trophoblastic diseasehCGhuman chorionic gonadotropintumour marker

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