A Case of Premature Ovarian Failure in Patient with Unbalanced translocation on the X chromosome.
- Author:
Ji Hyun SHIN
1
;
Jae Chun BYUN
;
Myoung Seok HAN
;
Moon Seok CHA
;
Goo Hwa JE
;
Hyun Ho KIM
;
Jin Yeong HAN
Author Information
1. Department of Obstetrics and Gynecology, Dong-A University, College of Medicine, Busan, Korea. hmsobgy@dau.ac.kr
- Publication Type:Case Report
- Keywords:
Premature ovarain failure (POF);
X chromosome;
Unbalanced translocation
- MeSH:
Amenorrhea;
Chromosome Aberrations;
Drug Therapy;
Female;
Follicle Stimulating Hormone;
Fragile X Syndrome;
Humans;
Karyotype;
Primary Ovarian Insufficiency*;
Turner Syndrome;
X Chromosome*
- From:Korean Journal of Obstetrics and Gynecology
2005;48(8):2000-2004
- CountryRepublic of Korea
- Language:Korean
-
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).