Fertility preservation in turner syndrome: a case report integrating clinical presentation with genomic and molecular mechanistic analyses.

objectiveThis study aimed to explore the fertility potential in Turner syndrome through a detailed multidisciplinary analysis of a 45,X patient who achieved a successful live birth via IVF, integrating clinical, genetic, and molecular perspectives to inform future fertility management strategies.

methodsA retrospective analysis was performed on a 30-year-old 45,X Turner syndrome patient diagnosed with primary infertility and bilateral fallopian tube obstruction. Genetic analyses, including karyotyping and CNV-seq, were conducted. The assessment covered medical history, auxiliary examinations, IVF treatment, prenatal diagnosis, and pregnancy outcomes.

resultsThe patient's peripheral blood karyotype was pure 45,X, but she successfully achieved pregnancy and delivered a healthy female infant via IVF-ET. Prenatal diagnosis revealed the fetal karyotype to be 46,XX, with no pathogenic CNVs detected.

conclusionThese findings indicate that a subset of Turner syndrome patients with a pure 45,X peripheral blood karyotype may retain reproductive potential, likely attributable to an underlying germline mosaicism. Healthy live births are achievable with assisted reproductive technology and prenatal diagnosis. Therefore, comprehensive fertility assessment, genetic counseling, and personalized management strategies should be offered to these individuals.