H-Y抗原陽性であった46,XX真性半陰陽の1例

概要

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A 23-year-old man was admitted to Osaka University Hospital with complaints of breast enlargement and defect of bilateral scrotal content. A gonad-like organ could be palpable at bilateral inguinal area and pubic hair was a female escutcheon in spite of complete male phenotype for both external genitalia and posterior urethra by retrograde urethrogram. Decreased serum value of testosterone and increased the serum value of estradiol and progesterone were found by endocrinological evaluation. Karyotype derived from skin fibroblast and peripheral lymphocyte was 46, XX and H-Y antigen was detected. Exploratory laparotomy disclosed uterus and bilateral ovotestis with epididymis, seminal vesicle and Fallopian tube. The patient received gonadectomy, hysterectomy and insertion of testicular prosthesis.