J Menopausal Med.  2015 Aug;21(2):112-114. 10.6118/jmm.2015.21.2.112.

Autosomal Translocation Patient Who Experienced Premature Menopause: A Case Report

• Kim TH
• Kim Y
• Jeong DW
• Lee EG
• Jeon DS
• Kim JM

• KMID: 2200991
• DOI: http://doi.org/10.6118/jmm.2015.21.2.112

Abstract

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.

Keyword

Autosomal translocation; Premature menopause; Premature Ovarian Failure

MeSH Terms

Female
Gonads
Hand
Humans
Menopause
Menopause, Premature*
Menstruation
Oocytes
Primary Ovarian Insufficiency
X Chromosome

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