Skip to content

Research at St Andrews

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

Research output: Contribution to journalArticle

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.
Close

Details

Original languageEnglish
Pages (from-to)1209-1217
Number of pages9
JournalJournal of Assisted Reproduction and Genetics
Volume35
Issue number7
Early online date26 May 2018
DOIs
Publication statusPublished - Jul 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. Anti-Müllerian hormone (AMH) in the diagnosis of menstrual disturbance due to polycystic ovarian syndrome

    Abbara, A., Eng, P. C., Phylactou, M., Clarke, S. A., Hunjan, T., Roberts, R., Vimalesvaran, S., Christopoulous, G., Islam, R., Purugganan, K., Comninos, A. M., Trew, G. H., Salim, R., Hramyka, A., Owens, L., Kelsey, T. W. & Dhillo, W., 26 Sep 2019, In : Frontiers in Endocrinology. 10, 11 p., 656.

    Research output: Contribution to journalArticle

  2. FSH requirements for follicle growth during controlled ovarian stimulation

    Abbara, A., Patel, A. H., Hunjan, T., Clarke, S., Chia, G., Eng, P. C., Phylactou, M., Comninos, A., Lavery, S., Trew, G., Salim, R., Rai, R., Kelsey, T. W. & Dhillo, W., 27 Aug 2019, In : Frontiers in Endocrinology. 10, 11 p., 579.

    Research output: Contribution to journalArticle

  3. Representation learning for minority and subtle activities in a smart home environment

    Rosales Sanabria, A., Kelsey, T. W. & Ye, J., 22 Jul 2019, Proceedings of the IEEE International Conference on Pervasive Computing and Communications (PerCom 2019). IEEE Computer Society, 7 p. 8767417

    Research output: Chapter in Book/Report/Conference proceedingConference contribution

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

    Mamsen, L. S., Charkiewicz, K., Anderson, R. A., Telfer, E. E., McLaughlin, M., Kelsey, T. W., Kristensen, S. G., Gook, D. A., Ernst, E. & Andersen, C. Y., Jun 2019, In : Fertility and Sterility. 111, 6, p. 1217-1225.e3 12 p.

    Research output: Contribution to journalArticle

  5. 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 journalArticle

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

Top