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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: false positive; familial hCG syndrome; home pregnancy tests; human chorionic gonadotropin (hCG); pregnancy test EN false positive familial hCG syndrome home pregnancy tests human chorionic gonadotropin (hCG) pregnancy test e424 e425 2 10/18/21 20210915 NES 210915 To the Editor, A 41-year-old woman under contraceptive treatment with hormonal intrauterine device and without relevant medical history presented to the emergency department (ED) of the Cliniques Universitaires Saint-Luc in Brussels, Belgium, for abdominal pain and a one-month delay in menstruation. When the hCG test result was announced as negative, the patient was surprised because her previous HCG tests had always been positive in the other clinical laboratories without any medical explanation. [Extracted from the article]

Abstract: An explanation is needed for why some men and women show positive in hCG screening tests when they are not pregnant, do not have cancer and are otherwise asymptomatic. In this study, a total of 10 families comprising 30 persons with a history of positive hCG tests were investigated. Total hCG was measured in serum and urine samples using the Siemens Immulite hCG test. Total hCG, C-terminal peptide determinant, and hCGβ were measured in 96 well plate assays. Twenty-four of 30 family members produced only hCGβ, and hCG or hCGβ missing the β-subunit C-terminal peptide, two rarely detected hCG degradation products as the only source of hCG immunoreactivity. In every one of the 10 families, hCG related molecules were detected first in one member and then later detected in other family members. In 8 of 10 families, all members produced comparable hCG concentration (Cases 1–8). All of the 10 original family members investigated were otherwise asymptomatic, and tested negative in ordered head and pelvis MRI scans and CT chest cancer tests. None had been administered hCG for dietary, anabolic or fertility reasons. Therefore Familial hCG Syndrome, a genetic defect, was indicated in each of the 10 families. In these cases of Familial hCG Syndrome only biologically inactive variants of hCG were detected. It is inferred that in Familial hCG Syndrome, hCG gene expression does not interfere with fertility. [Copyright &y& Elsevier]

•This is a rare inheritable condition which results in raised total HCG levels.•Common causes of raised HCG need to be excluded prior to considering this syndrome.•A diagnosis can prevent unnecessary surgical or oncological treatment.