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.