ArticlePloS one2016
Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Multiple endocrine neoplasia type 1 withJCEM case reports · 2026Article
- An Updated Perspective of the Clinical Features and Parathyroidectomy Impact in Primary Hyperparathyroidism Amid Multiple Endocrine Neoplasia Type 1 (MEN1): Focus on Bone Health.Journal of clinical medicine · 2025Review
- Importance of early detection in multiple endocrine neoplasia type 1: Clinical insights and future directions.World journal of gastrointestinal oncology · 2025Article
- 48-Year clinical experience and genetic analysis of pediatric primary hyperparathyroidism from a single center in China.Journal of endocrinological investigation · 2025Article
- Bone Mineral Density Changes in Multiple Endocrine Neoplasia Type 1: A Systematic Review and Meta-Analysis of Prevalence and Parathyroidectomy Outcomes.The archives of bone and joint surgery · 2025Review
- Analysis of Bone Phenotype Differences in MEN1-Related and Sporadic Primary Hyperparathyroidism Using 3D-DXA.Journal of clinical medicine · 2024Article
- [Comparative analysis of bone complications/manifestations in sporadic and MEN1-related primary hyperparathyroidism].Problemy endokrinologii · 2024Article
- Clinical and molecular features of four Brazilian families with multiple endocrine neoplasia type 1.Frontiers in endocrinology · 2023Article
- Clinical and genetic analysis of atypical parathyroid adenoma compared with parathyroid carcinoma and benign lesions in a Chinese cohort.Frontiers in endocrinology · 2023Article
- Analysis of 55 patients with multiple endocrine neoplasia type 1-associated insulinoma from a single center in China.Orphanet journal of rare diseases · 2022Article
- The role of menin in bone pathology.Endocrine connections · 2022Review
- A novel long-range deletion spanning CDC73 and upper-stream genes discovered in a kindred of familial primary hyperparathyroidism.Endocrine · 2022Article
- [Severe bone complications of primary hyperparathyroidism in a young patient with the rare verified mutation ofProblemy endokrinologii · 2022Article
- Multiple endocrine neoplasia type 1 revealed by a hip pathologic fracture.Clinical rheumatology · 2021Review
- Prevalence of Parathyroid Carcinoma and Atypical Parathyroid Neoplasms in 153 Patients With Multiple Endocrine Neoplasia Type 1: Case Series and Literature Review.Frontiers in endocrinology · 2020Review
- Impaired geometry, volumetric density, and microstructure of cortical and trabecular bone assessed by HR-pQCT in both sporadic and MEN1-related primary hyperparathyroidism.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2020Article
- Article
- Long-term follow-up and novel splice donor mutation inOncotarget · 2018Article
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10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveMultiple endocrine neoplasia type 1-related primary hyperparathyroidism (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of this study were to summarize the clinical features and genetic background of Chinese MHPT patients and compare the severity of the disease with those of SHPT. DESIGN AND
methodsA total of 40 MHPT (27 sporadic, 7 families) and 169 SHPT cases of Chinese descent were retrospectively analyzed. X-rays and ultrasound were used to assess the bone and urinary system. Dual energy x-ray absorptiometry (DXA) were performed to measure bone mineral density (BMD). Besides direct sequencing of the MEN1 and CDKN1B genes, multiplex ligation-dependent probe amplification (MLPA) was used to screen gross deletion for the MEN1 gene.
resultsCompared with SHPT patients, MHPT patients showed lower prevalence of typical X-ray changes related to PHPT (26.3% vs. 55.7%, P = 0.001) but higher prevalence of urolithiasis/renal calcification (40.2% vs. 60.0%, P = 0.024). MHPT patients showed higher phosphate level (0.84 vs. 0.73mmol/L, P<0.05) but lower ALP (103.0 vs. 174.0U/L, P<0.001) and PTH (4.0 vs. 9.8×upper limit, P<0.001) levels than SHPT patients. There were no significant differences in BMD Z-scores at the lumbar spine and femoral neck between the two groups. Mutations in the MEN1 gene were detected in 27 MHPT cases. Among the nine novel mutations were novel, one of them involved the deletion of exon 5 and 6.
conclusionsMHPT patients experienced more common kidney complications but less skeletal issues, and a milder biochemical manifestation compared with SHPT patients. MEN1 mutation detection rate was 79.4% and 9 of the identified mutations were novel.
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