Fertility and Sterility
Volume 91, Issue 3 , Pages 931.e3-931.e5, March 2009

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

  • Nicole Kummer, M.D.

      Affiliations

    • Corresponding Author InformationReprint requests: Dr. Nicole E. Kummer, Department of Obstetrics, Gynecology & Reproductive Sciences, Yale University, 333 Cedar St. P.O. Box 208063, New Haven, CT 06520 (FAX: 203-785-6885).
    • ,
  • J. Ryan Martin, M.D.
    • ,
  • Lubna Pal, M.B.B.S., M.R.C.O.G., M.S.

Yale University School of Medicine, New Haven, Connecticut

Received 14 May 2008; received in revised form 1 July 2008; accepted 9 July 2008. published online 01 October 2008.

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.

Key Words: Infertility, decreased ovarian reserve, follicles, translocation, karyotype

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 N.K. has nothing to disclose. J.R.M. has nothing to disclose. L.P. has nothing to disclose.

PII: S0015-0282(08)01501-X

doi:10.1016/j.fertnstert.2008.07.1726

Fertility and Sterility
Volume 91, Issue 3 , Pages 931.e3-931.e5, March 2009

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