ReviewThe Journal of clinical endocrinology and metabolism2015
Endocrine disorders in Fanconi anemia: recommendations for screening and treatment.
Review in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 102 citations in OpenAlex.
- Longitudinal clinical manifestations of Fanconi anemia: A systematized review.Blood reviews · 2024Pooled it
- Thyroid function disorders and secondary cancer following haematopoietic stem cell transplantation in pediatrics: State of the art and practical recommendations for a risk-based follow-up.Frontiers in endocrinology · 2022Pooled it
- Metformin for treatment of cytopenias in children and young adults with Fanconi anemia.Blood advances · 2022Trial
- Gynaecological and reproductive health of women with telomere biology disorders.British journal of haematology · 2021Trial
- Endocrinopathies, Bone Health, and Insulin Resistance in Patients with Fanconi Anemia after Hematopoietic Cell Transplantation.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2016Trial
- The tight bond between Fanconi anemia and aging.Frontiers in aging · 2026Review
- Metabolic reprogramming in Fanconi anemia: Evidence of compromised glucose oxidation, enhanced ketogenesis, and metabolic inflexibility.Science advances · 2025Article
- The crucial role of circadian synchronization in bone marrow adipose tissue mesenchymal stem cells: insights into pathogenesis in Fanconi anemia and acute myeloid leukemia.Molecular biology reports · 2025Article
- Dynamics of Fanconi anemia protein D2 in association with nuclear lipid droplet formation.Journal of cell science · 2025Article
- Insights into Fanconi Anemia Based on Molecular and Clinical Characteristics: A Multicentre Study of 13 Patients.Children (Basel, Switzerland) · 2025Article
- miR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stability.Cellular and molecular life sciences : CMLS · 2025Article
- Late Effects Following Hematopoietic Stem Cell Transplantation Among Childhood Transplant Survivors with Fanconi AnemiaTurkish journal of haematology : official journal of Turkish Society of Haematology · 2025Article
- Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes.Endocrine connections · 2024Article
- Review
- Fanconi Anemia in a 31-Year-Old Patient with Multiple Malignant Tumor Foci, Including Appendiceal Cancer, and Multiple Coexisting Pathologies.The American journal of case reports · 2024Article
- Fertility Preservation in BRCA1/2 Germline Mutation Carriers: An Overview.Life (Basel, Switzerland) · 2024Review
- Small pituitary volume and central nervous system anomalies in Fanconi Anemia.Frontiers in endocrinology · 2024Article
- Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort.Haematologica · 2023Article
- Late endocrine effects after hematopoietic stem cell transplantation in children with nonmalignant diseases.Bone marrow transplantation · 2022Article
- Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability.Frontiers in oncology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 10 institutions in 1 country.
Funding
Abstract
contextEndocrine problems are common in patients with Fanconi anemia (FA). About 80% of children and adults with FA have at least one endocrine abnormality, including short stature, GH deficiency, abnormal glucose or insulin metabolism, dyslipidemia, hypothyroidism, pubertal delay, hypogonadism, or impaired fertility. The goal of this report is to provide an overview of endocrine abnormalities and guidelines for routine screening and treatment to allow early diagnosis and timely intervention. EVIDENCE ACQUISITION: This work is based on a comprehensive literature review, including relevant articles published between 1971 and 2014, and proceedings of a Consensus Conference held by the Fanconi Anemia Research Fund in 2013. EVIDENCE SYNTHESIS: The panel of experts collected published evidence and discussed its relevance to reflect current information about the endocrine care of children and adults with FA before the Consensus Conference and through subsequent deliberations that led to the consensus.
conclusionsIndividuals with FA should be routinely screened for endocrine abnormalities, including evaluation of growth; glucose, insulin, and lipid metabolism; thyroid function; puberty; gonadal function; and bone mineral metabolism. Inclusion of an endocrinologist as part of the multidisciplinary patient care team is key to providing comprehensive care for patients with FA.
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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.