不妊を主訴に発見された47XYY症候群の1例

概要

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A 32-year-old man was referred to our hospital for primary infertility of a 4.5-year duration. Neither character nor intelligence disorders were observed. Bilateral testes measured 16 ml each. Sperm density was 0-0.1 x 10(6)/ml on 3 separate occasions. Endocrine examinations were all within normal limits. Maturation arrest was found on testicular biopsy. Karyotyping showed 47, XYY inversion. Polymerase chain reaction revealed no deletion of the azoospermic factor (AZF) gene on the Y chromosome. This is the 6th case reported in the Japanese literature of the 47XYY syndrome presenting with male infertility.