X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature

TL;DR

A 33-year-old woman with premature ovarian insufficiency was found to have an X chromosome rearrangement, expanding the genetic understanding of this condition.

Contribution

The study identifies a novel X chromosome rearrangement associated with premature ovarian insufficiency using molecular cytogenetic methods.

Findings

A 33-year-old woman with POI was found to have X chromosome rearrangement with duplication and deletion.

Combining WES and cytogenetic methods improves understanding of genetic causes of complex diseases like POI.

The case expands the known genetic spectrum of POI linked to X chromosomal abnormalities.

Abstract

Premature ovarian insufficiency (POI) is a clinical condition characterized by ovarian dysfunction in women under 40. The etiology of most POI cases remains unidentified and is believed to be multifactorial, including factors such as autoimmunity, metabolism, infection, and genetics. POI exhibits significant genetic heterogeneity, and it can result from chromosomal abnormalities and monogenic defects.

The study participant, a 33-year-old woman, presented with a history of irregular menstruation that commenced two years ago, progressing to prolonged menstrual episodes and eventual cessation. The participant exhibits a rearrangement of the X chromosome, characterized by heterozygosity duplication on the long arm and heterozygosity deletion on the short arm by whole exome sequencing(WES) combined with cell chromosome detection.

This study expands the spectrum of mutations associated with POI resulting from X chromosomal abnormalities. WES-Copy number variation analysis, in conjunction with chromosome karyotype analysis and other detection techniques, can provide a more comprehensive understanding of the genetic landscape underlying complex single or multi-system diseases.

The online version contains supplementary material available at 10.1186/s13039-024-00676-2.

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