Premature ovarian failure related to trisomy X: Two case reports with an aberrant 47, XXX karyotype

Premature ovarian failure related to trisomy X: Two case reports with an aberrant 47, XXX karyotype

Blog Article

Trisomy X syndrome is a sex chromosome aneuploidy with a variable clinical presentation at different stages of click here 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 read more infertility and POF for detecting chromosomal aneuploidies, which will require genetic counseling and alter the management.