Cryopreservation of ovarian tissue may be considered in young girls with galactosemia
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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.
Mamsen , L S , Kelsey , T W , Ernst , E , Macklon , K T , Lund , A M & Andersen , C Y 2018 , ' Cryopreservation of ovarian tissue may be considered in young girls with galactosemia ' , Journal of Assisted Reproduction and Genetics , vol. 35 , no. 7 , pp. 1209-1217 . https://doi.org/10.1007/s10815-018-1209-2
Journal of Assisted Reproduction and Genetics
© 2018, Springer Science+Business Media, LLC, part of Springer Nature. This work has been made available online in accordance with the publisher’s policies. This is the author created, accepted version manuscript following peer review and may differ slightly from the final published version. The final published version of this work is available at https://doi.org/10.1007/s10815-018-1209-2
DescriptionThis study was founded by Rigshospitalets Forskingspuljer, the Novo Nordisk Foundation, and ReproUnion.
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