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| CASE REPORT |
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| Year : 2021 |
Volume
: 14 | Issue : 1 | Page
: 87-90 |
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Premature ovarian failure related to trisomy X: Two case reports with an aberrant 47, XXX karyotype
Paresh Singhal1, Sharanjit Singh1, Praveen Kumar2, Nikita Naredi2
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
India
 Source of Support: None, Conflict of Interest: None  | Check |
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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