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Case Report : Autosomal Translocation Patient Who Experienced Premature Menopause: A Case Report
( Tae-hee Kim ),( Yesol Kim ),( Do-won Jeong ),( Eun-gyeong Lee ),( Dong-su Jeon ),( Jun-mo Kim3 ) 대한폐경학회 2015 대한폐경학회지 Vol.21 No.2
Premature ovarian failure (POF) is a condition in which the ovarian functions of hormone production and oocyte development become impaired before the typical age for menopause. POF and early menopause are present in a broad spectrum of gonad dysgenesis, from a complete cessation of ovarian function to an intermittent follicle maturation failure. Actually POF has been identified as a genetic entity (especially chromosome X), but data on genetic factors of premature menopause are limited. Until now, several cases revealed that inactivation of X chromosomes has an effect on ages of premature menopause and females with balanced or unbalanced X-autosome translocations can have several reproductive problems. On the other hand, there have been a few data that was caused by autosome-autosome translocation can lead. Therefore we report a relevant case of POF with translocation between chromosomes 1 and 4. She had her first menstrual period at the age of 12, and after 7 years she stopped menstruation. Chromosomal analysis showed 46, XX, t (1;4) (p22.3;q31.3). While evaluating this rare case, we could review various causes (especially genetic factors) of POF. To remind clinicians about this disease, we report a case of POF caused by autosomeautosome translocation with a literature review. (J Menopausal Med 2015;21:112-114)
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이숙환(Sook Hwan Lee),윤태기(Tae Ki Yoon),차광열(Kwang Yul Cha),곽인평(In Pyung Kwak),김현주(Hyun Joo Kim),남윤성(Yoon Sung Nam) 대한산부인과학회 1999 Obstetrics & Gynecology Science Vol.42 No.3
Aneuploidy results from nondisjunction in either the meiotic division of the parents or the early cleavage divisions of the affected individuals. The sex chromosomes show a wide range of viable aneuploidy than do the autosomes. The incidence of 47,XXY and 47,XYY children increases with maternal age, as does that of autosomal trisomies, whereas the incidence of 45,X children does not increase with maternal age. In the group of sex chromosome aueuploidies, the 47,XXY and 47,XYY conditions occur with nearly equal hequency at birth. Translocations between X or Y chromosomes and an autosome or between an X chromosome and the Y chromosome cause sterility in human males. It has been assumed that a translocation involving either(or both) of the sex chromosomes would interfere with inactivation of the XY bivalent and thaeby disturb spermatogenesis. We bave experienced a case of Y-autosome translocation in azoospermic patient. So we report this case with a brief review of literatures.
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