Premature ovarian failure and 46,X,del(X)(q21) Prematüre ovaryen yetmezlik ve 46,X,del(X)(q21)

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Kara N., Tural Ş., Okten G., Koçak İ., Tekcan A.

Ondokuz Mayis Universitesi Tip Dergisi, cilt.29, sa.2, ss.167-168, 2012 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 2
  • Basım Tarihi: 2012
  • Doi Numarası: 10.5835/jecm.omu.29.02.018
  • Dergi Adı: Ondokuz Mayis Universitesi Tip Dergisi
  • Derginin Tarandığı İndeksler: Scopus
  • Sayfa Sayıları: ss.167-168
  • Anahtar Kelimeler: Amenorrhea, Chromosomal aberration, Cytogenetics, Female infertility, Premature ovarian failure, X chromosome deletion
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

Premature ovarian failure (POF) is a common cause of infertility in women, and is characterised by amenorrhoea, hypo-oestrogenism and elevated gonadotrophin levels in women under the age of 40. Genetic, autoimmune and the environmental factors play a role in the pathogenesis. In this study, we investigated a 22 year-old woman having premature ovarian failure, referred to our laboratuary from Ondokuz Mayis University Gynecology and Obstetrics polyclinic. In conventional cytogenetic analysis, a deletion was observed in the long arm of the X chromosome 46,X,del(X)(q21). This finding was emphasised once again the significance of X chromosome deletions in the premature ovarian failure. © 2012 OMU.