Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation

Ovarian tissue cryopreservation may be considered in girls and young women with Turner syndrome; how- ever, the benefit may be limited to a highly selected group of Turner syndrome mosaic patients.

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Volume 111, Issue 6, Pages 1217–1225.e3

Authors:

Linn Salto Mamsen, Ph.D., Karol Charkiewicz, Ph.D., M.B.A., Richard A. Anderson, M.D., Ph.D., Evelyn E. Telfer, Ph.D., Marie McLaughlin, Ph.D., Thomas W. Kelsey, Ph.D., Stine G. Kristensen, Ph.D., Debra A. Gook, Ph.D., Erik Ernst, Ph.D., Claus Yding Andersen, D.M.Sc.

Abstract:

Objective

To characterize ovarian follicles of girls and young women with Turner syndrome (TS) who underwent ovarian tissue cryopreservation (OTC).

Design

Retrospective case–control study.

Setting

University hospital.

Patient(s)

Fifteen girls and young women with TS aged 5–22 years at OTC were included, together with 42 control girls and young women aged 1–25 years who underwent OTC because of cancer.

Intervention(s)

None.

Main Outcome Measure(s)

Follicle density (follicles/mm3), morphology, and health were assessed in ovarian cortex biopsies from TS patients and compared with controls. Hormone concentrations were measured in serum and follicle fluids. Immature cumulus oocyte complexes were obtained and matured in vitro.

Result(s)

Follicles were found in 60% of the biopsies (9 of 15) from TS ovaries. In 78% of the ovaries (7 of 9) with follicles, the follicle density was within the 95% confidence interval of the control group. There was a high rate of abnormal follicle morphology. Six follicle-specific proteins were expressed similarly in TS and control ovaries. However, apoptosis and zona pellucida protein expression were found to be abnormal in TS. Turner syndrome follicle fluid from small antral follicles had lower concentrations of estrogen and testosterone and higher concentrations of antimüllerian hormone than controls. Thirty-one cumulus oocyte complexes were collected from one patient and cultured for 48 hours in vitro, resulting in five metaphase II oocytes (maturation rate 16%, degeneration rate 19%).

Conclusion(s)

The benefits of OTC may be limited to a highly selected group of TS mosaic patients in whom a sizeable pool of normal follicles is present at OTC.


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