Elevated human chorionic gonadotropin (hCG) of unknown etiology is often a diagnostic dilemma. Determination of its source is vital in order to provide proper medical treatment and prevent possible unneeded therapeutic interventions. The differential diagnosis for elevated hCG is broad and includes pregnancy, chronic kidney disease, heterophile antibody, macro-hCG, exogenous hCG administration, pituitary secretion, tumor-associated secretion, etc. One entity that is emerging in the published literature as a cause of elevated hCG is familial hCG syndrome. This syndrome is characterized by persistently elevated concentrations from a yet to be determined source in individuals of the same family. In this special report, we review a recently published case of elevated hCG in a 56-year-old male proposed to be due to familial hCG syndrome. We discuss why we feel the presented case is not consistent with familial hCG syndrome and explore other possible explanations for the patient's elevated hCG concentrations.
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