Diminished ovarian reserve in a woman with a balanced 13;21 translocation

Objective: To present the a case of decreased ovarian reserve in a patient with a balanced 13; 21 translocation. Design: Case report. Setting: Reproductive endocrinology and infertility practice in a university teaching hospital. Patient(s): A 33-year-old caucasian woman with primary infertility. Intervention(s): Laboratory evaluation, hysterosalpingogram, karyotype analysis, semen analysis. Main Outcome Measure(s): Endocrinologic evaluation and genetic analysis. Result(s): A diagnosis of decreased ovarian reserve based upon laboratory evaluation with concomitant findings of a balanced translocation between the long arms of chromosomes 13 and 21. Conclusion(s): A diagnosis of primary infertility secondary to decreased ovarian reserve of unknown etiology, but with karyotype evidence of a balanced autosomal translocation and a familial history of early menopause, suggested possible roles of autosomal genes in mechanisms of ovarian follicular attrition. (Fertil Steril (R) 2009;91:931.e3-e5. (C) 2009 by American Society for Reproductive Medicine.)