tailieunhanh - Báo cáo y học: "Premature ovarian failure in a woman with a balanced 15;21 translocation: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Premature ovarian failure in a woman with a balanced 15;21 translocation: a case report. | Hosseini et al. Journal of Medical Case Reports 2011 5 250 http content 5 1 250 JOURNAL OF MEDICAL CASE REPORTS CASE REPORT Open Access Premature ovarian failure in a woman with a balanced 15 21 translocation a case report Sayedehafagh Hosseini Marzieh Vahid Dastjerdi Zahra Asgari and Haydeh Samiee Abstract Introduction A case of premature ovarian failure with concomitant findings of Robertsonian translocation between 15 and 21 chromosomes is reported here. The aforementioned karyotypic aberration has not been reported in the context of premature ovarian failure to date. Case presentation We present a case of premature ovarian failure in a 27-year-old infertile Kurdish Iranian woman with a Robertsonian 15 21 translocation. Conclusions The diagnosis of premature ovarian failure of unknown etiology but with karyotypic evidence of a balanced autosomal translocation suggests the possible role of autosomal genes in the pathogenesis of ovarian follicular attrition. Introduction A significant family history of early menopause is found in about 5 of cases of premature ovarian failure POF 1 . To determine the underlying basis of POF genetic causes with a range of proposed loci are currently under investigation. Out of every 900 babies one is born with a Robertsonian translocation cited for the first time in 1964 by Gustavsson and Ingemar showing that this translocation is the most common significant and recurrent structural rearrangement known in man. Case presentation Our patient a 27-year-old Iranian Kurdish woman under evaluation for infertility had experienced secondary amenorrhea from the age of 24. She had received hormonal replacement for the past three years which resulted in cyclical bleeding but she remained anovulatory. The Karyotype of the proband showed a translocation between chromosomes 21 and 15 45 XX t 21 15 . She had regular menstruation cycles from the age of 13 until 21 years of age. Her height and weight were in the 90th and