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

Research output: Contribution to journalArticle

Open Access Status

  • Embargoed (until 26/05/19)

Author(s)

Linn Salto Mamsen, Thomas William Kelsey, Erik Ernst, Kirsten Tryde Macklon, Allan Meldgaard Lund, Claus Yding Andersen

School/Research organisations

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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Details

Original languageEnglish
JournalJournal of Assisted Reproduction and Genetics
VolumeFirst Online
Early online date26 May 2018
DOIs
StateE-pub ahead of print - 26 May 2018

    Research areas

  • Galactosemia, Premature ovarian failure, Fertility preservation, Ovarian function, AMH, PAPP-A, GDF-9

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