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KMID : 1007320150210020112
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Journal of the Korean Society of Menopause
2015 Volume.21 No. 2 p.112 ~ p.114
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Autosomal Translocation Patient Who Experienced Premature Menopause: A Case Report
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Kim Tae-Hee
Kim Ye-Sol
Jeong Do-Won
Lee Eun-Gyeong
Jeon Dong-Su
Kim Jun-Mo
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Abstract
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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 autosome-autosome translocation with a literature review.
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KEYWORD
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Autosomal translocation, Premature menopause, Premature Ovarian Failure
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