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.


METHODS
Case report.


METHODS
Reproductive endocrinology and infertility practice in a university teaching hospital.


METHODS
A 33-year-old caucasian woman with primary infertility.


METHODS
Laboratory evaluation, hysterosalpingogram, karyotype analysis, semen analysis.


METHODS
Endocrinologic evaluation and genetic analysis.


RESULTS
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.


CONCLUSIONS
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.
Kummer
Nicole
N
Department of Obstetrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Martin
J Ryan
JR
Pal
Lubna
L
D000328:Adult; D002882:Chromosomes, Human, Pair 13; D002891:Chromosomes, Human, Pair 21; D005260:Female; D006801:Humans; D007047:Hysterosalpingography; D007247:Infertility, Female / Q000235:genetics* / Q000503:physiopathology; D007621:Karyotyping; D010053:Ovary / Q000503:physiopathology*; D016649:Primary Ovarian Insufficiency / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D055101:Semen Analysis; D014178:Translocation, Genetic