身体各部の染色体を検索しえた混合型性腺形成不全症の一症例

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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 was 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.
一般社団法人日本内分泌学会の論文