46 , XX Gonadal Dysgenesis 의 1 예

46, XX gonadal dysgenesis is characterized by normal stature, sexual infantilism, bilateral streak gonads, normal female internal and external genitalia, primary amenorrhea, elevated gonadotrophin, absence of the somatic stigmata of Turners syndrome and 46, XX karyotype. This female patient was presented with primary amenorrhea, sexual infantilism, underdeveloped secondary sex characteristics and reproductive organs with evidence of hypergonadotrophic hypogonadism. Internal sex organs were not found by pelvic examination and pelvic sonography. The karyotype of the patient was a normal female chromosome composition(46, XX). The patient has a few somatic stigmata but not the complete phenotypic manifestation of Turner's syndrome. This disease, as far as we know, is a rare reported case of 46, XX gonadal dysgenesis documented by clinical and karyotypical characteristics in Korean literature.