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원발성 무월경에서 발견된 46XX 순수 생식선 이상발생으로 인한 조기난소부전 1례
이숙환,윤태기,차광열,남윤성,이정노,장성운 대한폐경학회 1999 대한폐경학회지 Vol.5 No.1
Premature ovarian failure is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women younger than 40 years. Although chomosomal and genetic abnormalities, enzymatic defects and iatrogenic agents, including cytotoxic drugs, pelvic irradiation and ovariectomy, have been cited as causes of premature ovarian failure, the most common cause is autoimmunity. Individuals with pure gonadal dysgenesis usually demonstrate primary amenorrhea, infantile secondary sex characteristics, and normal stature. Secondary sex characteristics and a history of a few episodes of spontaneous uterine bleeding at the time of puberty have been reported, however. These women most likely had a few primordial follicles that responded to gonadotropic stimulation, resulting in some ovarian estrogen production. The somatic abnormalities associated with Turner syndrome are usually absent in individuals with pure gonadal dysgenesis. This disorder is probably genetic in origin, as it has been reported to affect siblings. We have experienced a case of premature ovarian failure due to 46XX pure gonadal dysgenesis which was found in primary amenorrhea. So we report this case with a brief review of literatures.
무정자증과 관련된 45 , X/46 , XY 혼합 생식선 이상발생 1 예
이숙환,곽인평,윤태기,차광열,김현주,남윤성 대한산부인과학회 1998 Obstetrics & Gynecology Science Vol.41 No.8
저자들은 무정자증 환자에서 핵형검사상 45 , X/46 , XY를 보인 혼합 생식선 이상 발생 ( mixed gonadal dysgenesis ) 1 예를 경험하였기에 문헌 고찰과 함께 보고하는 바이다. Gonadal dysgenesis traditionally has been based upon phenotypically classified syndromes in which one or both gonads become atretic or streaks. In chromosomally competent ovarian (or gonadal) failure (CCOF) the karyotypes are 46,XX or 46,XY with no cytogenetically demonstrable abnormalities. In chromosomally incompetent ovarian (or gonadal) failure (CIOF) cytogenetic abnormalities are present and include 45,X and mosaicisms (45,X/46,XX), partial deletionsof X (46,X, del[Xq], and ring X), structural abnormalities of X (46,X, i[Xq]) or Y with their mosaicisms, and mixed gonadal dysgenesis (45,X/46,XY). The gonadal phenotypes include bilateral streaks, a unilateral streak and a contralateral ovary or testis, and bilateral abdominal or scrotal testes. Somatic phenotypes range from patients with the classic Turner phenotype with short stature and sexual infantilism, though those with limited gonadal function resulting in partial or complete isosexual or heterosexual pubertal changes, to those with normal stature and sexual infantilism. We have experienced a case of mixed gonadal dysgenesis in male infertile patient with azoospermia. So we report this case with a brief review of literatures.