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Diminished ovarian reserve in a woman with a balanced 13;21 translocation
Nicole Kummer1, J Ryan Martin, Lubna Pal
1Department of Obstetrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
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.
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