Circulating choriogonadotropin beta subunit in a patient with primary amenorrhea and embryonal ovarian carcinoma

A 20-year-old patient, phenotypically female, genotypically male, who had previously sought medical attention for primary amenorrhea, developed an embryonal carcinoma in the right gonad. Selective formation of the beta subunit of choriogonadotropin was demonstrated by positive test results on native serum and after gel filtration with a classical "beta-HCG" assay and a specific assay for the beta subunit, but negative results with a specific assay for choriogonadotropin. The concentrations of placental lactogen, alpha-fetoprotein and choriogonadotropin alpha subunit were normal. This case illustrates the necessity for early diagnosis of primary ovarian insufficiency in cases of primary amenorrhea. The results indicate that, for the detection of certain neoplastic disorders, the lower specificity of the choriogonadotropin assay introduced in 1972 by Vaitukaitis and coworkers [25]--reacting equally well with choriogonadotropin and with free beta subunit--may have advantages over the more specific assays for choriogonadotropin and for the beta subunit described by Franchimont et al. [8,28,29]. The availability of the latter assays, however, facilitates the identification of the immunoreactive material found with the former assay. The ambiguity of the present nomenclature for "beta-HCG" assay is pointed out.