Hormonal and ultrasound markers of ovarian function in a woman with a balanced 1;11 translocation

Objective: To present a case of a poor responder woman with a rare balanced autosomal translocation. Design: Case report. Setting: Infertility center in a university teaching hospital. Patient(s): A 34-year-old white woman with primary infertility. Intervention(s): Laboratory and ultrasound evaluation, karyotype analysis, ovarian stimulation with gonadotropins. Main Outcome Measure(s): Markers of ovarian reserve and ovarian response to gonadotropin stimulation. Result(s): The patient was a carrier of a balanced translocation (1;11) (q23;p11.2). The hormone ovarian reserve markers (FSH, anti-Mullerian hormone, inhibin B) were within the normal range. The antral follicle count (AFC) was measured twice and only in one occasion did it reach the lower limit of the normal range. Furthermore, the patient had regular menstrual cycles. However, ovarian response to the administration of a maximal dose FSH was extremely poor. Conclusion(s): Patients with balanced autosomal translocations should be counseled regarding their increased risk for poor response even if markers of ovarian reserve are in the range of normality. (Fertil Steril (R) 2011;95:803.e7-e8. (C)2011 by American Society for Reproductive Medicine.)