ArticleThe Journal of clinical endocrinology and metabolism2013
Modifiers of ovarian function in girls and women with classic galactosemia.
Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- Primary ovarian insufficiency in Classic Galactosemia: a systematic review.Journal of endocrinological investigation · 2025Pooled it
- Reproductive potential in classical galactosemia: A case series based perspective.European journal of obstetrics & gynecology and reproductive biology: X · 2026Article
- Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia.Journal of inherited metabolic disease · 2025Article
- Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.Journal of inherited metabolic disease · 2023Article
- Fertility Preservation as an Option for Women with Genetic Disorders: Insights from a SWOT Analysis on Elective Oocyte Freezing and Preimplantation Genetic Testing.Life (Basel, Switzerland) · 2023Article
- The hypergonadotropic hypogonadism conundrum of classic galactosemia.Human reproduction update · 2023Article
- A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.Journal of inherited metabolic disease · 2022Article
- 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
- Current and Future Treatments for Classic Galactosemia.Journal of personalized medicine · 2021Review
- A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pups.Journal of inherited metabolic disease · 2021Article
- Ultrastructural Characterization of Porcine Growing and In Vitro Matured Oocytes.Animals : an open access journal from MDPI · 2020Article
- Insights into the Pathophysiology of Infertility in Females with Classical Galactosaemia.International journal of molecular sciences · 2019Review
- Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study.Journal of inherited metabolic disease · 2019Article
- Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactions.Orphanet journal of rare diseases · 2018Article
- Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.Journal of inherited metabolic disease · 2018Article
- Cryopreservation of ovarian tissue may be considered in young girls with galactosemia.Journal of assisted reproduction and genetics · 2018Article
- Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.Journal of inherited metabolic disease · 2018Article
- Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.Journal of inherited metabolic disease · 2017Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
contextClassic galactosemia is a potentially lethal genetic disorder resulting from profound impairment of galactose-1P uridylyltransferase (GALT). More than 80% of girls and women with classic galactosemia experience primary or premature ovarian insufficiency despite neonatal diagnosis and rigorous lifelong dietary galactose restriction.
objectiveThe goal of this study was to test the relationship between markers of ovarian reserve, cryptic residual GALT activity, and spontaneous pubertal development in girls with classic galactosemia. DESIGN AND
settingThis was a cross-sectional study with some longitudinal follow-up in a university research environment. PATIENTS: Patients included girls and women with classic galactosemia and unaffected controls, <1 month to 30 years old.
main outcome measuresWe evaluated plasma anti-Müllerian hormone (AMH) and FSH levels, antral follicle counts ascertained by ultrasound, and ovarian function as indicated by spontaneous vs assisted menarche.
resultsMore than 73% of the pre- and postpubertal girls and women with classic galactosemia in this study, ages >3 months to 30 years, demonstrated AMH levels below the 95% confidence interval for AMH among controls of the same age, and both pre- and postpubertal girls and women with classic galactosemia also demonstrated abnormally low antral follicle counts relative to age-matched controls. Predicted residual GALT activity ≥ 0.4% significantly increased the likelihood that a girl with classic galactosemia would demonstrate an AMH level ≥ 0.1 ng/mL.
conclusionsA majority of girls with classic galactosemia demonstrate evidence of diminished ovarian reserve by 3 months of age, and predicted cryptic residual GALT activity is a modifier of ovarian function in galactosemic girls and women.
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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.