Nicole Kummer1, J Ryan Martin, Lubna Pal. 1. Department of Obstetrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Abstract
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.
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.
Authors: Chantal B Bartels; Reeva Makhijani; Prachi Godiwala; Alison Bartolucci; John C Nulsen; Daniel R Grow; Lawrence Engmann; Claudio A Benadiva Journal: F S Rep Date: 2020-09-25