Analysis of the Sex-determining Region of the Y Chromosome (SRY) in a Case of 46, XX True Hermaphrodite

Abstract

We present here an 18-month-old 46, XX true hermaphrodite with hypospadias and bifid scrotum. The patient's gonadotropin levels before and after the LH-RH test were within the normal range. The serum testosterone level was <5.0 ng/dL and rose to 381 ng/dL after the human chorionic gonadotropin test. The serum estradiol level was <10 pg/mL and did not rise after the human menopausal gonadotropin test. Pelvic magnetic resonance imaging (MRI) revealed a vagina-like structure. Bilateral gonads were palpable in the scrotum, and histologically, they were ovotestes. We could find no sequence of sex-determining region Y (SRY) in the ovotestes, perineal skin, or leukocytes by polymerase chain reaction (PCR) methods. Other Y-specific DNA sequences were also not detected.These findings suggest that some XX true hermaphroditism is caused by a very low proportion of Y-containing cells, which cannot be detected by PCR methods. Alternatively, a mutation of one of the down-stream genes of SRY could be involved in the pathogenesis.