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Published in: Journal of Assisted Reproduction and Genetics 7/2018

01-07-2018 | Fertility Preservation

Cryopreservation of ovarian tissue may be considered in young girls with galactosemia

Authors: Linn Salto Mamsen, Thomas W. Kelsey, Erik Ernst, Kirsten Tryde Macklon, Allan Meldgaard Lund, Claus Yding Andersen

Published in: Journal of Assisted Reproduction and Genetics | Issue 7/2018

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Abstract

Purpose

The aim was to describe the first experience with fertility preservation by cryopreservation of ovarian tissue (OTC) in pre-pubertal girls with galactosemia and further to characterize ovarian follicular morphology and expression of proteins important for ovarian function.

Methods

Retrospectively, follicle density was estimated in ovarian cortical tissues from 6 pre-pubertal girls below the age of 12 years diagnosed with galactosemia and from 31 girls below the age of 18 years who had one ovary removed for fertility preservation for other reasons prior to gonadotoxic treatment. Additionally, expression of 4 glycoproteins important for follicle development were analyzed with immunohistochemistry in two galactosemic ovaries (aged 0.9 and 1.7 years) and compared to normal age-matched controls. The proteins included were: anti-Müllerian hormone (AMH) pro-mature and C-terminal, growth differentiation factor-9 (GDF-9), bone morphogenetic protein 15 (BMP-15), and pregnancy-associated plasma protein A (PAPP-A).

Results

Girls with galactosemia below the age of 5 years presented with morphological normal follicles and follicle densities within the 95% confidence interval (CI) of controls. No follicles were detected in the ovary from an 11.7-year-old girl with galactosemia. Expression of AMH, GDF-9, BMP-15, and PAPP-A appeared similar in follicles from girls with galactosemia and controls.

Conclusions

These findings suggest that young girls with galactosemia maintain follicles in early childhood and fertility cryopreservation may be considered an option in this patient group. The pathophysiology of galactosemia leading to an accelerated follicle loss is unknown and it is currently unknown to what extent transplanted ovarian tissue can sustain fertility in adult life.
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Metadata
Title
Cryopreservation of ovarian tissue may be considered in young girls with galactosemia
Authors
Linn Salto Mamsen
Thomas W. Kelsey
Erik Ernst
Kirsten Tryde Macklon
Allan Meldgaard Lund
Claus Yding Andersen
Publication date
01-07-2018
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 7/2018
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-018-1209-2

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