Ovarian tissue for fertility preservation-which will involve 2 IRB approved protocols: 000106 and 000715

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

Investigators

Linked publications & trials

Abstract

The Pediatric and Adolescent Gynecology program has developed two protocols for ovarian tissue cryopreservation in children and adolescents. The first is a protocol for ovarian tissue cryopreservation for prepubertal children with Turner syndrome, classic galactosemia, adolescents with recent primary ovarian insufficiency (POI), individuals with Turner Syndrome with Y chromosome material, adolescents with diminished ovarian reserve, and individuals with variations in sex characteristics (or differences in sex development, DSD). These are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child. Researchers want to learn more about why this happens and if freezing ovarian tissue allows for fertility preservation. The second protocol will allow us to collect tissue and data which will inform the first protocol. In this protocol we are performing ovarian tissue cryopreservation in children and adolescents undergoing gonadotoxic therapy. In these protocols one ovary will be removed, 80% of the tissue will be stored for future use by the patient and 20% will be saved for research with the following aims: 1. Clinical phenotyping and histologic evaluation: We hope to determine through deep clinical phenotyping and histologic evaluation whether patients with Turner syndrome, classic galactosemia, and adolescents with recent premature ovarian insufficiency (POI), have ovaries containing viable follicles and whether these correlate with currently known (and any identified in the future) ovarian reserve markers. 2. Single-Nucleus RNA Sequencing: The critical mechanisms of follicle activation and atresia are incompletely understood. Single-nucleus RNA (sn-RNA seq) sequencing provides a way to obtain transcriptome profiles and can be performed on frozen tissue. Frozen ovarian tissue samples from OTC will be studied and compared to that of age-matched cadaveric organ donors. Through sequencing of ovarian tissue from children with Turner syndrome and classic galactosemia, adolescents with recent premature ovarian insufficiency as well as children prior to receiving gonadotoxic therapy, we hope to begin to elucidate possible mechanisms of follicle loss in these conditions.