Open AccessPremature ovarian failure related to trisomy X: Two case reports with an aberrant 47, XXX karyotype
Author(s) -
Paresh Singhal,
Sharanjit Singh,
Praveen Kumar,
Nikita Naredi
Publication year - 2021
Publication title -
journal of human reproductive sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.484
H-Index - 31
eISSN - 0974-1208
pISSN - 1998-4766
DOI - 10.4103/jhrs.jhrs_59_20
Subject(s) - trisomy , premature ovarian failure , infertility , presentation (obstetrics) , aneuploidy , ovarian reserve , genetic counseling , unexplained infertility , gynecology , karyotype , turner syndrome , primary infertility , obstetrics , medicine , biology , chromosome , pregnancy , pediatrics , genetics , gene
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.