Skip to content

Research at St Andrews

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)


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

School/Research organisations


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.


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

    Research areas

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

Discover related content
Find related publications, people, projects and more using interactive charts.

View graph of relations

Related by author

  1. Perinatal complications in female survivors of cancer: a systematic review and meta-analysis

    van der Kooi, A. L., Kelsey, T. W., van den Heuvel-Eibrink, M., Laven, J. S. E., Wallace, W. H. B. & Anderson, R. A., Apr 2019, In : European Journal of Cancer. 111, p. 126-137

    Research output: Contribution to journalReview article

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

    Mamsen, L., Charkiewicz, K., Anderson, R., Telfer, E., McGlaughlin, M., Kelsey, T. W., Kristensen, S., Gook, D., Ernst, E. & Andersen, C. Y., 25 Mar 2019, In : Fertility and Sterility. In press

    Research output: Contribution to journalArticle

  3. FSH requirements for follicle growth during controlled ovarian stimulation

    Hunjan, T., Abbara, A., Patel, A., Clarke, S., Chia, G., Eng, P., Phylactou, M., Comninos, A., Lavery, S., Trew, G., Salim, R., Rai, R., Kelsey, T. W. & Dhillo, W., 2019.

    Research output: Contribution to conferenceAbstract

  4. Fertility preservation by ovarian tissue freezing in patients with genetic and chromosomal disorders

    Mamsen, L. S., Anderson, R. A., Telfer, E. E., McGlaughlin, M., Kelsey, T. W., Ernst, E., Macklon, K. T., Lund, A. M., Kristensen, S. G., Gook, D. A. & Andersen, C. Y., 2019.

    Research output: Contribution to conferenceAbstract

Related by journal

  1. An externally validated age-related model of mean follicle density in the cortex of the human ovary

    McLaughlin, M., Kelsey, T., Wallace, W. H. B., Anderson, R. A. & Telfer, E. E., Jul 2015, In : Journal of Assisted Reproduction and Genetics. 32, 7, p. 1089-1095 7 p.

    Research output: Contribution to journalArticle

ID: 246459413