Abstract
We report a 17 year old patient with mixed gonadal dysgenesis (MGD) raised as a female. The patient had undergone amputation of the phallus at 10 months of age and showed short and masculinized characteristics with ambiguous external genitalia. Abdominal exploration revealed a hypoplastic uterus with a fallopian tube and streak gonad on the right side and a poorly developed testis and epididymis with vas deferens on the left side. Following chromosomal analysis, the cultured peripheral lymphocytes and bone marrow cells showed 45,X in karyotype. Although the mosaicism of 45,X/46,X+mar was revealed by both G- and Q-banding methods in the cultured skin fibroblasts and the cells of various gonadal organs examined, the rate of 45,X karyotype was high (77-97%) in the cells of each organ tissue. Endocrine examinations showed plasma testosterone levels to be slightly higher than those of a normal female. The response of plasma testosterone and estradiol to HCG was low. Hypergonadotropic hypogonadism was revealed.
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