Korean J Obstet Gynecol.  2004 Aug;47(8):1558-1564.

Analysis of X Chromosome Inactivation in Women with Premature Ovarian Failure

Affiliations
  • 1Department of Obstetrics and Gynecology, College of Medicine, Konkuk University, Seo
  • 2Department of Pediatrics, College of Medicine, Konkuk University, Seoul, Korea.
  • 3Department of Obstetrics and Gynecology, College of Medicine, Yonsei University, Seoul, Korea.
  • 4Department of Obstetrics and Gynecology, College of Medicine, Ajou University, Suwon, Korea.
  • 5Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical School, Dallas, Texas, USA.

Abstract


OBJECTIVE
Premature ovarian failure (POF) is a highly heterogenous condition, and its etiology remains unknown in approximately two-thirds of cases. POF can be caused by Turner syndrome, genetic disease, iatrogenic agents such as chemotherapy and radiotherapy, infection and autoimmune disease. X chromosome inactivation is the random process in females during early embryogenesis to achieve dosage compensation with males. But skewed X chromosome inactivation occurs in the female carriers, secondary to cell-autonomous selection against cells in which the abnormal X chromosome is active. Highly skewed X chromosome inactivation is likely to occur in POF which caused by subcytogenetic X chromosome deletion or translocation and X-linked gene mutation. The present study was performed to investigate whether highly skewed inactivation of X chromosome is observed in POF.
METHODS
Eighty-six women with premature ovarian failure were studied and eighty-three normal women were enrolled as a control group. X chromosome inactivation pattern were determined by studying methylation pattern of androgen receptor gene.
RESULTS
Seventy-six of the 86 POF patients were informative for X chromosome inactivation assay, 8 (10.5%) of them showed highly skewed X chromosome inactivation. In the age matched control group, 3 (4.1%) out of the 74 subjects showed highly skewed X chromosome inactivation. However, this finding is not statistically significant (p=0.2274). Among highly skewed X inactivation, one case of premature ovarian failure revealed 46,XX,del(X)(p21) by high resolution band karyotyping. Therefore highly skewed X inactivation can provide clues to evaluate the causes in POF.
CONCLUSION
This study suggests that screening of skewed X chromosome inactivation for the POF will be useful to detect subcytogenetic X chromosome deletion or translocation and X-linked gene mutation associated with POF.

Keyword

Premature ovarian failure; Skewed X inactivation

MeSH Terms

Autoimmune Diseases
Compensation and Redress
Drug Therapy
Embryonic Development
Female
Genes, X-Linked
Humans
Iatrogenic Disease
Karyotyping
Male
Mass Screening
Methylation
Pregnancy
Primary Ovarian Insufficiency*
Radiotherapy
Receptors, Androgen
Turner Syndrome
X Chromosome Inactivation*
X Chromosome*
Receptors, Androgen
Full Text Links
  • KJOG
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr