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 390L2

2024/10 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。

• 2026-10
  Outcomes of Surgical Interventions in Children With Fibrous Dysplasia/McCune-Albright Syndrome
  Journal of pediatric orthopedics · DOI · Europe PMC
• 2026-09
  Physical disability and quality-of-life burden in McCune-Albright syndrome: a nationwide survey in Japan
  Endocrine journal · DOI · Europe PMC
• 2026-09综述开放获取
  Risk factors and preventive strategies for precocious puberty: a narrative review
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-09病例报告开放获取
  Case Report: Total hip arthroplasty via the direct anterior approach using a cementless revision stem without corrective osteotomy for fibrous dysplasia
  Frontiers in surgery · DOI · Europe PMC
• 2026-09
  Letrozole in Paediatric Females for Peripheral Precocious Puberty: A Systematic Review of Efficacy and Safety
  The Journal of clinical endocrinology and metabolism · DOI · Europe PMC
• 2026-09开放获取
  Automated segmentation and length measurement of metacarpal and phalangeal bones for hand radiograph evaluation
  Scientific reports · DOI · Europe PMC
• 2026-09综述开放获取
  Oral Pigmentation in Children: A Narrative Review and Practical Diagnostic Framework
  Cureus · DOI · Europe PMC
• 2026-09开放获取
  Inherited and somatic components in the pathogenetics of common diseases
  Vavilovskii zhurnal genetiki i selektsii · DOI · Europe PMC
• 2026-08病例报告开放获取
  Orthopaedic diagnostic pitfalls in fibroblast growth factor 23-mediated hypophosphatemic rickets/osteomalacia in fibrous dysplasia/McCune-Albright syndrome: Two burosumab-treated cases
  Bone reports · DOI · Europe PMC
• 2026-08临床试验开放获取
  Palovarotene impact on fibrodysplasia ossificans progressiva (FOP): data from month 48 of the phase III MOVE trial
  JBMR plus · DOI · Europe PMC
• 2026-08
  Lesion Expansion in Craniofacial Fibrous Dysplasia: Natural History and Indicators of Progression in the Frontal, Zygomatic, and Sphenoid Bones
  Journal of bone and mineral research : the official journal of the Ame · DOI · Europe PMC
• 2026-08开放获取
  Rising incidence of central precocious puberty in Thailand: a nationwide population-based study before, during, and after the COVID-19 pandemic (2018-2024)
  Clinical and experimental pediatrics · 被引 1 · DOI · Europe PMC
• 2026-08开放获取
  Impact of endoscopy and related technologies on indications for transsphenoidal pituitary surgery for growth hormone-producing pituitary neuroendocrine tumors in McCune-Albright syndrome: illustrative case
  Journal of neurosurgery. Case lessons · DOI · Europe PMC
• 2026-08综述开放获取
  Modern Determinants of Earlier Menarche and Mental Health: A Translational Review for Clinicians
  Children (Basel, Switzerland) · DOI · Europe PMC
• 2026-08开放获取
  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
• 2026-08综述开放获取
  Phosphate: An Anion Controlling Metabolic Functions
  Nutrients · DOI · Europe PMC
• 2026-08开放获取
  Fibrosarcoma of bone masquerading as fibrous dysplasia: diagnostic pitfall and molecular correlates of aggressive behavior
  Journal of pathology and translational medicine · DOI · Europe PMC
• 2026-07开放获取
  Abstracts of the ERICA ERN research conference
  Orphanet journal of rare diseases · DOI · Europe PMC
• 2026-07开放获取
  Abstracts of the 12th International Conference on Children's Bone Health
  JBMR plus
• 2026-07病例报告开放获取
  Fibrous Dysplasia Presenting as an Exophytic Gingival Mass: A Rare Clinical Presentation
  Journal of clinical medicine · DOI · Europe PMC

中国境外的在招试验 4L2

共 4 项。

• 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