SEX CHROMOSOME MOSAICISM IN THE GONADS OF PATIENTS WITH PREMATURE OVARIAN FAILURE


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Abstract

Objective. To study sex chromosomes in the interphase nuclei of gonadal cells in patients with premature ovarian failure (POF) and gonadal dysgenesis. Subjects and methods. A study group comprised 29 patients with POF and a normal karyotype in lymphocytes; a comparison group included 2 patients with POF and abnormal (47,XXY and 45,Х/46,ХХ) karyotypes in lymphocytes and 3 patients with gonadal dysgenesis (2 had a normal karyotype and 1 had a full form of 45,X). A control group consisted of 10 ovarian tissue autopsy specimens from young women. Fluorescence in-situ hybridization was used. Results. Different types of gonadal sex chromosome mosaicism were found in 21 (72.4%) of the 29 patients of the study POF group, in 1 (50%) in the comparison POF group, and in all 3 patients with gonadal dysgenesis. Among the 10 control ovaries, tissue mosaicism was detected only in 2 (20%) cases, which was statistically significantly less than that in patients with ovarian failure (p < 0.003). Ovarian tissues showed 2 to 50% of Y chromosome cells that were not found in the lymphocytes in 1 (3.4%) patient with POF and in 2 (66.6%) patients with gonadal dysgenesis. Conclusion. Occult gonadal sex chromosome mosaicism may be a mechanism of premature exhaustion of the follicular pool in patients with POF as in those with different forms of gonadal dysgenesis.

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About the authors

N. A ZHAKHUR

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

L. A MARCHENKO

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

Email: l_marchenko@oparina4.ru

L. F KURILO

Research Center for Medical Genetics, Russian Academy of Medical Sciences

A. I KARSELADZE

N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences

L. B BUTAREVA

Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health and Social Development of Russia

A. M STROGANOVA

N.N. Blokhin Russian Cancer Research Center, Russian Academy of Medical Sciences

References

  1. Габибуллаева З.Г. Клинико-генетические особенности течения преждевременной недостаточности яичников: Дис.. канд. мед. наук. - М., 2008.
  2. Курило Л.Ф. Развитие яичников человека в пренатальный период // Арх. анат. - 1980. - Т. 79, № 7. -С. 73-79.
  3. Назаренко С.А., Тимошевский В.А., Островерхова Н.В. Интерфазный анализ Х-анеуплоидии методом флуоресцентной гибридизации in situ в разных тканях здоровых лиц // Генетика. - 1997. - Т. 33, № 10. - С. 1426-1430.
  4. Сухих Г.Т., Марченко Л.А., Чернышова Н.А. и др. Ограниченный тканевой мозаицизм по половым хромосомам у больных с преждевременной недостаточностью яичников // Пробл. репрод. - 2009. - № 3. - C. 87-92.
  5. Табеева Г.И. Оценка андрогенного статуса при преждевременной недостаточности яичников и дифференциальный подход к лечению: Автореф. дис.канд. мед. наук. - М., 2009.
  6. Ayuso C., Ramos C., Bello M.J. et al. Gonadal and cytogenetical study in ten patients with gonadal dysgenesis // Clin.Genet. -1983. - Vol. 23. - P. 208.
  7. Bisat T., May K., Litwer S., Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia // Clin. Genet. - 1993. - Vol.44. - P. 142-145.
  8. Devi A.S., Metzger D.A., Luciano A.A., Benn P.A. 45,X/46,XX mosaicism in patients with idiopathic premature ovarian failure // Fertil. and Steril. -1998. -Vol. 70, № 1. - P. 89-93.
  9. Fernandez-Garcia R., Garcia-Doval S., Costoya S., Pasaro E. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of «hidden» mosaicism // Clin. Genet. - 2000. - Vol. 58, № 3. - P.201-208.
  10. Gravholt C.H., Fedder J., Naeraa R.W., Muller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study // J. Clin. Endocrinol. Metab. -2000. - Vol. 85. - P. 3199-3202.
  11. Hanson L., Bryman I., Janson P.O. et al. Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue // Hereditas. - 2002. - Vol. 137. - P. 1-6.
  12. Kurilo L.F. Oogenesis in antenatal development in man // Hum. Genet. -1981. - Vol. 57. - P. 86-92.
  13. Lakhal B., Braham R., Berguigua R. et al. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients // Clin. Genet. - 2010. - Vol. 78. - № 2. - P. 181-185.
  14. Modi D.N., Sane S., Bhartiya D. Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads // Mol. Hum. Reprod. - 2003. - Vol. 9, № 4. - P. 219-225.
  15. Nath J., Tucker J., Hando J. Y chromosome aneuploidy, micronuclei,kinetochoresand aging in men// Chromosoma. -1995. - Vol. 103. - № 10. - P. 725-731.
  16. Nazarenko S.A., Timoshevsky V.A., Sukhanova N.N. High frequency of tissue-specific mosaicism in Turner syndrome patients // Clin. Genet. - 1999. - Vol. 56. - P. 59-65.
  17. Nippita T.A., Baber R.J. Premature ovarian failure: a review // Climacteric. - 2007. - Vol. 10, № 1. - P. 11-22.
  18. Rebar R.W. Premature ovarian failure // Obstet. and Gynecol. - 2009. - Vol. 113, № 6. - P. 1355-1363.
  19. Röpke A., Pelz A., Volleth M. et al. Sex chromosomal mosaicism in the gonads of patients with gonadal dysgenesis, but normal female or male karyotypes in lymphocytes // Am.J. Obstet. Gynecol. - 2004. - Vol. 190. - P.1059-1062.
  20. Surico N., Messina M., Ponzio G. et al. Limited diagnostic value of lymphocytic karyotype in primary amenorrhea with streak gonads // Eur.J. Obstet.Gynecol.Reprod.Biol. - 1987. - Vol. 26. - P. 145-150.
  21. Sybert V.P. Phenotypic effect of mosaicism for a 47, XXX cell line in Turner syndrome // J. Med. Genet. - 2002. -Vol. 39. - P. 217-221.

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