McCune-Albright综合征

定义 英文原文（暂无中文）

A rare mosaic syndrome characterized by the combination of two or more of the following: fibrous dysplasia of bone (FD), hyperpigmented macules, and hyperfunctioning endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, endogenous Cushing syndrome).

别名

促性腺激素非依赖性女性性早熟

基本事实

遗传方式

不适用

发病年龄

儿童期

患病率

1-9 / 1 000 000（Europe）

相关基因 1

临床表型 53

近两年的全球研究 374L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

• 2026-08
  Quantitative Validation of the "Coastline" Heuristic for Café-au-Lait Macule Borders in Neurofibromatosis Type 1 and McCune-Albright Syndrome
  Journal of the American Academy of Dermatology · DOI · Europe PMC
• 2026-07
  Diagnostic delay, misdiagnosis, and patient-reported psychosocial burden among Chinese individuals with McCune-Albright syndrome: a national cross-sectional survey
  Orphanet journal of rare diseases · DOI · Europe PMC
• 2026-07
  Successful Transition in Rare Metabolic Bone Diseases: One-Year Outcomes of a Multidisciplinary Pediatric-Adult Program
  Medicina (Kaunas, Lithuania) · DOI · Europe PMC
• 2026-07
  Fibrous dysplasia: clinical and pathologic characteristics, surgical approaches, and outcomes in a large Italian cohort
  Journal of orthopaedics and traumatology : official journal of the Ita · DOI · Europe PMC
• 2026-06
  Intensive, interdisciplinary pain treatment in fibrous dysplasia/McCune-Albright syndrome
  JBMR plus · DOI · Europe PMC
• 2026-06
  McCune-Albright Syndrome with Extensive Fibrous Dysplasia Evaluated by 18F-FDG PET/CT and Whole-body Bone Scintigraphy: A Case Report
  Nuklearmedizin. Nuclear medicine · DOI · Europe PMC
• 2026-06
  Individualized antiresorptive therapy in fibrous dysplasia and McCune-Albright syndrome: A retrospective cohort study
  Bone reports · DOI · Europe PMC
• 2026-06开放获取
  Dose-, duration- and age-dependent effects of zoledronic acid on bone structure and mechanical properties in growing rice rats
  Frontiers in endocrinology · DOI · Europe PMC
• 2026-06综述开放获取
  Gastric Adenomas and Mimickers: A Review
  Diagnostics (Basel, Switzerland)
• 2026-06
  Peripheral precocious puberty due to inadvertent exposure to topical oestradiol gel and review of the literature
  Archives of disease in childhood. Education and practice edition · DOI · Europe PMC
• 2026-06综述开放获取
  Acromegaly diagnosis
  The Journal of clinical endocrinology and metabolism · DOI · Europe PMC
• 2026-06综述开放获取
  Genetics of familial acromegaly and pituitary gigantism
  The Journal of clinical endocrinology and metabolism · DOI · Europe PMC
• 2026-06系统综述开放获取
  The use of denosumab in rare bone diseases in adults: a systematic review from the ECTS Rare Bone Disease Action Group
  The Journal of clinical endocrinology and metabolism · DOI · Europe PMC
• 2026-06综述开放获取
  Pathogenesis of nonfamilial somatotroph adenomas
  The Journal of clinical endocrinology and metabolism · DOI · Europe PMC
• 2026-05综述
  Imaging of Fibrous Dysplasia: A Comprehensive In-Depth Analysis of Monostotic, Polyostotic, Syndromic Forms, and Bone Sarcoma Development
  Journal of imaging · DOI · Europe PMC
• 2026-05病例报告开放获取
  A rare calvarial aneurysmal bone cyst in an adult: Case report and literature review
  Surgical neurology international · DOI · Europe PMC
• 2026-05病例报告
  Atypical Management of Type 2 Amiodarone-Induced Thyrotoxicosis Without Corticosteroids: A Case Report and Review of Therapeutic Challenges
  Cureus · DOI · Europe PMC
• 2026-05
  Fibrous Dysplasia in Hospitalized Patients in France: Prevalence and Associated Manifestations from a Health Database
  The Journal of clinical endocrinology and metabolism · DOI · Europe PMC
• 2026-05病例报告
  Letrozole Treatment in Idiopathic Peripheral Precocious Puberty Without Diagnosis of McCune-Albright Syndrome: A Case Report
  Journal of pediatric and adolescent gynecology · DOI · Europe PMC
• 2026-05
  Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: A retrospective study of a French cohort
  Annales d'endocrinologie · DOI · Europe PMC

中国境外的在招试验 5L2

共 5 项。

• 尚未开始招募NCT07476768
  PAINDYS_Characterizing Pain in Fibrous Dysplasia of Bone/McCune-Albright Syndrome: an Exploratory Pilot Study
  不适用 · 干预性 · 2026/03/01University Hospital, Clermont-Ferrand
  法国
• 招募中NCT05966064
  DEnosumab for the Treatment of FIbrous Dysplasia/McCune-Albright Syndrome in Adults (DeFiD)
  IV 期 · 干预性 · 2023/06/13Natasha Appelman-Dijkstra
  荷兰
• 招募中NCT07569731
  Fibrous Dysplasia: An Epidemiological and Correlational Evaluation of Multimodal Data
  观察性 · 2022/05/12Istituto Ortopedico Rizzoli
  意大利
• 招募中NCT03231644
  Fibrous Dysplasia, McCune-Albright Syndrome Patient Registry
  观察性 · 2016/10/31Tovah Burstein
  美国
• 招募中NCT00001727
  Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and the McCune-Albright Syndrome
  观察性 · 1998/12/13National Institute of Dental and Craniofacial Research (NIDCR)
  美国

外部标识与链接