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Korean Journal of Obstetrics & Gynecology 2004;47(8):1558-1564.
Published online August 1, 2004.
Analysis of X Chromosome Inactivation in Women with Premature Ovarian Failure.
In Sook Sohn, Dalyeong Yoo, Dong Wook Jang, Yun Jeong Cha, Soo Nyung Kim, Ji Young Lee, Byung Il Yun, So Chung Chung, Ki Hyun Park, Byung Seok Lee, Kyung Joo Hwang, Andrew R Zinn
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.
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.
Key Words: Premature ovarian failure, Skewed X inactivation

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