ArticleThe Journal of clinical endocrinology and metabolism2020
Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly.
Article in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
What it found
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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
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- American Association of Clinical Endocrinology Consensus Statement on Management of Multiple Endocrine Neoplasia Type 1.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2025Guideline
- Acromegaly and breast cancer risk: evidence from a systematic review and meta-analysis.Frontiers in endocrinology · 2025Pooled it
- Acromegaly as the Initial Presentation of Multiple Endocrine Neoplasia Type 1: A Case Report.The American journal of case reports · 2026Article
- [A combination of endogenous hypercortisolism and primary hyperparathyroidism: clinical and genetic characteristics].Problemy endokrinologii · 2026Observational
- Article
- Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.The Journal of clinical endocrinology and metabolism · 2025Article
- Genotype-phenotype correlation in multiple endocrine neoplasia type 1.JCI insight · 2025Article
- Unlocking the Genetic Secrets of Acromegaly: Exploring the Role of Genetics in a Rare Disorder.Current issues in molecular biology · 2024Review
- The Pathogenic RET Val804Met Variant in Acromegaly: A New Clinical Phenotype?International journal of molecular sciences · 2024Article
- [Plasma miRNA expression in patients with genetically confirmed multiple endocrine neoplasia type 1 syndrome and its phenocopies].Problemy endokrinologii · 2024Article
- Multiple endocrine neoplasia type 4 (MEN4): a thorough update on the latest and least known men syndrome.Endocrine · 2023Review
- [Predicting the presence ofProblemy endokrinologii · 2023Article
- Analysis of Nephrolithiasis Treatment in Highest Reference Hospital-Occurrence of Acromegaly in the Study Group.Journal of clinical medicine · 2023Article
- The Future of Somatostatin Receptor Ligands in Acromegaly.The Journal of clinical endocrinology and metabolism · 2022Review
- Pituitary carcinoma: reclassification and implications in the NET schema.Endocrine oncology (Bristol, England) · 2022Review
- [Morphological characteristics of pituitary adenomas in the phenocopy of multiple endocrine neoplasia type 1].Problemy endokrinologii · 2021Article
- Pituitary neuroendocrine tumors: a model for neuroendocrine tumor classification.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Review
- Genetics of Acromegaly and Gigantism.Journal of clinical medicine · 2021Review
- Multiple Endocrine Neoplasia Type 1: Latest Insights.Endocrine reviews · 2021Review
- Genomics and Epigenomics of Pituitary Tumors: What Do Pathologists Need to Know?Endocrine pathology · 2021Review
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 3 countries.
Funding
Abstract
contextClinical multiple endocrine neoplasia type 1 (MEN-1) is diagnosed by the presence of at least 2 MEN-1-associated tumors. Many patients with acromegaly and clinical MEN-1 yield negative testing for MEN1 mutations. While cases of acromegaly and primary hyperparathyroidism (PHP) with negative genetic testing have been reported, its prevalence among patients with acromegaly is undetermined, and the clinical presentation has not been well characterized.
objectivesThe main goals of this study are: (1) To determine the prevalence of clinical MEN-1 with PHP in patients with acromegaly and characterize their clinical features; and (2) to evaluate the genetic basis for the coexistence of acromegaly and PHP.
designRetrospective record review and genetic analysis.
settingClinical Research Centers.
participants414 patients with acromegaly.
interventionsClinical evaluation and DNA sequencing for MEN1, CDKN1A, CDKN1B, CDKN2B, CDKN2C, and AIP genes. MAIN OUTCOME MEASUREMENTS: Clinical and genetic analysis.
resultsAmong patients with acromegaly, clinical MEN-1, as defined by the presence of at least one other MEN-1-associated tumor, was present in 6.6%. PHP occurred in 6.1%; more than half had parathyroid hyperplasia. DNA sequencing was unrevealing for genetic mutations, except for 1 case of a CDC73 mutation. Acromegaly was diagnosed at an older age with a higher prevalence of malignancies (specifically breast and thyroid) in patients with coexisting PHP than those with isolated acromegaly.
conclusionsA distinct phenotype is described in patients with clinical MEN-1 and negative genetic testing for mutations previously associated with this syndrome. Further studies are needed to identify other genes that may explain the association between PHP and acromegaly.
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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.