Autosomal Translocation Patient Who Experienced Premature Menopause: A Case Report.

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.

• Authors: Tae-Hee Kim, Yesol Kim, Do-Won Jeong, Eun-Gyeong Lee, Dong-Su Jeon, Jun-Mo Kim
• Journal: Journal of menopausal medicine (J Menopausal Med) Vol. 21 Issue 2 Pg. 112-4 (Aug 2015) ISSN: 2288-6478 [Print] Korea (South)
• PMID: 26356509 (Publication Type: Case Reports)