Premature ovarian failure and 46,X,del(X)(q21)

Abstract

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.