精巣女性化症候群の1例

概要

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A 21-year-old female visited the gynecological clinic because of primary amenorrhea. The patient was a phenotypic female with scanty pubic hair, short and blind-ending vagina and bilateral inguinal soft masses. The patients was referred to our clinic. The serum luteinizing hormone level was 27.1 mIU/ml, follicle stimulating hormone level was 8.8 mIU/ml, and testosterone level was 11 ng/ml. Chromosomal analysis of peripheral lymphocytes revealed the karyotype 46, XY. The pathological specimens of bilateral inguinal masses showed atrophic testis without spermatogenesis and with Sertoli's cell nodular hyperplasia. The diagnosis of testicular feminization was established.