TY - JOUR

T1 - Characterization of follicles in girls and young women with Turner syndrome who underwent ovarian tissue cryopreservation

AU - Mamsen, Linn Salto

AU - Charkiewicz, Karol

AU - Anderson, Richard A

AU - Telfer, Evelyn E

AU - McLaughlin, Marie

AU - Kelsey, Thomas W

AU - Kristensen, Stine G

AU - Gook, Debra A

AU - Ernst, Erik

AU - Andersen, Claus Yding

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Biopsy

KW - Child

KW - Child, Preschool

KW - Clinical Decision-Making

KW - Cryopreservation

KW - Female

KW - Fertility

KW - Fertility Preservation/methods

KW - Follicular Fluid/chemistry

KW - Genetic Predisposition to Disease

KW - Humans

KW - In Vitro Oocyte Maturation Techniques

KW - Infant

KW - Infertility, Female/etiology

KW - Ovarian Follicle/chemistry

KW - Ovary/chemistry

KW - Patient Selection

KW - Phenotype

KW - Predictive Value of Tests

KW - Reproductive Techniques, Assisted

KW - Retrospective Studies

KW - Turner Syndrome/complications

KW - Young Adult

U2 - 10.1016/j.fertnstert.2019.02.003

DO - 10.1016/j.fertnstert.2019.02.003

M3 - Journal article

C2 - 30922638

VL - 111

SP - 1217-1225.e3

JO - Sexuality, Reproduction and Menopause

JF - Sexuality, Reproduction and Menopause

SN - 1546-2501

IS - 6

ER -