X 염색체 불균형 전위를 가진 환자에서 발생한조기난소부전 1예
A Case of Premature Ovarian Failure in Patient with Unbalanced translocation on the X chromosome
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초록
=조기난소부전은 40세 이전에 월경이 종료되는 것으로 무월경과 여성호르몬 결핍증, 성선자극호르몬 과다증을 특징으로 한다. 조기난소부전은 모든 여성에서 약 1% 정도의 빈도로 발생하며, 대부분에서 원인은 명확히 알려져 있지 않으나, 유전적 요소, 자가면역질환, 외인성 요인, 환경적 독성물질 등이 관련되어 있는 것으로 보인다. 특히, Turner 증후군, Fragile X 증후군, X 염색체 결손과 전위 등 X 염색체 이상과 관련이 높은데, 저자들은 X-상염색체 전위를 가진 여성에서 조기난소부전을 경험하였기에 문헌 고찰과 함께 보고하는 바이다.
Abstract
Premature ovarian failure (POF) is defined as the complete cessation of menses less than 40 years of age. The criteria are more than four months of amenorrhea, with serum follicle stimulating hormone value of >40 mIU/mL and the frequency of POF is about 1% of all women. Although the etiologies of POF remain unknown, suggested factors are genetic, autoimmune, chemotherapy and environmental toxicants. The cytogenetic abnormalities predominantly concern the X chromosome, including Turner syndrome, Fragile X syndrome and deletion or translocation of X chromosome. We report a case of premature ovarian failure with the following karyotype: 46,X,der(X), t(X;11)(q28;p13).
참고문헌 (11)
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