ArticleJournal of assisted reproduction and genetics2018
Cryopreservation of ovarian tissue may be considered in young girls with galactosemia.
Article in Journal of assisted reproduction and genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 2 of them syntheses that pooled it.
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The trial behind it
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Who cites it
24 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Primary ovarian insufficiency in Classic Galactosemia: a systematic review.Journal of endocrinological investigation · 2025Pooled it
- A Systematic Review of Ovarian Tissue Transplantation Outcomes by Ovarian Tissue Processing Size for Cryopreservation.Frontiers in endocrinology · 2022Pooled it
- Reproductive potential in classical galactosemia: A case series based perspective.European journal of obstetrics & gynecology and reproductive biology: X · 2026Article
- Research progress on multi-mechanism analysis and protection strategies of ovarian aging and fertility decline.Journal of ovarian research · 2026Review
- [Advances in ovarian tissue cryopreservation and transplanta-tion for fertility preservation in prepubertal patients].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2025Review
- Reshaping the Treatment Landscape of a Galactose Metabolism Disorder.Journal of inherited metabolic disease · 2025Review
- Single-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia.Clinical and translational medicine · 2024Article
- Female fertility preservation for family planning: a position statement of the Italian Society of Fertility and Sterility and Reproductive Medicine (SIFES-MR).Journal of assisted reproduction and genetics · 2024Article
- A case report of classic galactosemia with a GALT gene variant and a literature review.BMC pediatrics · 2024Review
- Clinical pregnancy in Turner syndrome following re-implantation of cryopreserved ovarian cortex.Journal of assisted reproduction and genetics · 2023Article
- Effects of needle puncturing on re-vascularization and follicle survival in xenotransplanted human ovarian tissue.Reproductive biology and endocrinology : RB&E · 2023Article
- The hypergonadotropic hypogonadism conundrum of classic galactosemia.Human reproduction update · 2023Article
- The Importance of Neonatal Screening for Galactosemia.Nutrients · 2022Review
- Ovarian Reserve Disorders, Can We Prevent Them? A Review.International journal of molecular sciences · 2022Review
- Ovarian Tissue Cryopreservation in Children and Adolescents.Children (Basel, Switzerland) · 2022Review
- Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.Biomolecules · 2022Review
- Effects of Er:YAG laser treatment on re-vascularization and follicle survival in frozen/thawed human ovarian cortex transplanted to immunodeficient mice.Journal of assisted reproduction and genetics · 2021Article
- Pathophysiology and management of classic galactosemic primary ovarian insufficiency.Reproduction & fertility · 2021Review
- Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI).Journal of assisted reproduction and genetics · 2021Review
- Puberty and fertility in classic galactosemia.Endocrine connections · 2021Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe 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.
methodsRetrospectively, 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).
resultsGirls 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.
conclusionsThese 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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.