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

These 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.