ReviewFrontiers in endocrinology2024
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.
Review in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Hyperphagia in Prader-Willi syndrome: linking hypothalamic dysfunction to clinical assessment and management across the lifespan.Orphanet journal of rare diseases · 2026Review
- Case report: Tirzepatide-responsive refractory diabetes mellitus in an adult female with prader-willi syndrome.Medicine · 2026Article
- [Multiple clinical effects of recombinant human growth hormone therapy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Review
- Understanding the burden of endocrine and metabolic disorders in Prader-Willi syndrome: data from the Italian registry.Journal of endocrinological investigation · 2026Article
- Epidemiology, Comorbidities, and Healthcare Costs of Prader-Willi Syndrome in South Korea Using the Korean National Health Insurance Service Database.Journal of obesity & metabolic syndrome · 2026Article
- Exploring cardiovascular risk in subclinical hypothyroidism: The impact of TSHR gene expression and systemic biomarkers.Journal of cardiovascular and thoracic research · 2026Article
- Review
- Optimal timing of recombinant growth hormone therapy in Prader-Willi syndrome: the case for very early initiation.Frontiers in endocrinology · 2026Article
- Innovative models to explore hepatic involvement in Prader-Willi syndrome.Frontiers in endocrinology · 2026Review
- Preliminary Report on Temperature Dysregulation in a Cohort of Youth with Prader-Willi Syndrome.Reports (MDPI) · 2025Article
- Life Satisfaction, Global Health and Mood in Prader-Willi Syndrome: Use of PROMIS and Glasgow Depression Scales.Journal of applied research in intellectual disabilities : JARID · 2025Article
- Fetal Growth Restriction and Its Metabolism-Related Long-Term Outcomes-Underlying Mechanisms and Clinical Implications.Nutrients · 2025Review
- Differences in Bone Metabolism between Children with Prader-Willi Syndrome during Growth Hormone Treatment and Healthy Subjects: A Pilot Study.International journal of molecular sciences · 2024Article
- Astragalus Extract Mixture HT042 Alleviates Dexamethasone-Induced Bone Growth Retardation in Rat Metatarsal Bones.Nutrients · 2024Article
- Case Report: Plummer's adenoma in Prader-Willi syndrome.Frontiers in pediatrics · 2024Article
Corrections and comments
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Authors and funding
35 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypothalamic-pituitary axis, leading to excessive hunger (hyperphagia), severe obesity, various endocrine disorders, and intellectual disability. Differences in physical and behavioral characteristics between patients with PWS due to deletion versus those with maternal disomy are discussed in literature. Patients with maternal disomy tend to have more frequent neurodevelopmental problems, such as autistic traits and behavioral issues, and generally have higher IQ levels compared to those with deletion of the critical PWS region. This has led us to review the pertinent literature to investigate the possibility of establishing connections between the genetic abnormalities and the endocrine disorders experienced by PWS patients, in order to develop more targeted diagnostic and treatment protocols. In this review, we will review the current state of clinical studies focusing on endocrine disorders in individuals with PWS patients, with a specific focus on the various genetic causes. We will look at topics such as neonatal anthropometry, thyroid issues, adrenal problems, hypogonadism, bone metabolism abnormalities, metabolic syndrome resulting from severe obesity caused by hyperphagia, deficiencies in the GH/IGF-1 axis, and the corresponding responses to treatment.
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