Journal of Human Reproductive Science
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CASE REPORT Table of Contents   
Year : 2021  |  Volume : 14  |  Issue : 1  |  Page : 87-90
Premature ovarian failure related to trisomy X: Two case reports with an aberrant 47, XXX karyotype

1 Department of Pathology, Armed Forces Medical College, Pune, Maharashtra, India
2 Department of ARTC, Command Hospital (SC), Pune, Maharashtra, India

Correspondence Address:
Dr. Sharanjit Singh
Department of Pathology, Armed Forces Medical College, Pune - 411 040, Maharashtra
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jhrs.JHRS_59_20

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Trisomy X syndrome is a sex chromosome aneuploidy with a variable clinical presentation at different stages of life. We present two asyndromic females with primary infertility and features of premature ovarian failure (POF). The first case was a nonmosaic trisomy X with poor ovarian reserve on pelvic ultrasound and elevated gonadotropins, while the second case was a mosaic trisomy X who had partly preserved ovarian reserve with normal gonadotropins. The 47,XXX syndrome is a relatively uncommon presentation of POF, leading to infertility and can be missed clinically because of its variable presentation. Therefore, we suggest that genetic testing should be a part of early workup in young women presenting with primary infertility and POF for detecting chromosomal aneuploidies, which will require genetic counseling and alter the management.

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