Analysis of clinical features of 193 Chinese patients with McCune-Albright syndrome through a literature review
10.3760/cma.j.cn511374-20230425-00242
- VernacularTitle:基于文献回顾的193例McCune-Albright综合征患者的临床特征分析
- Author:
Xin FENG
1
;
Ke YUAN
;
Huifei LU
;
Haifeng TU
;
Jiangfang ZHU
;
Yanlan FANG
;
Qingfeng YAN
;
Chunlin WANG
Author Information
1. 浙江大学医学院附属第一医院儿科，杭州 310003
- Keywords:
McCune-Albright syndrome;
Fibrous dysplasia;
Endocrine hyperfunction;
Café-au-Lait Spots;
Rare disease
- From:
Chinese Journal of Medical Genetics
2024;41(7):776-782
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To retrospectively analyze the clinical characteristics of 193 Chinese patients with McCune-Albright syndrome (MAS).Methods:By using keywords " McCune-Albright syndrome", " Albright syndrome", or " fibrous dysplasia " as the search terms, 193 cases of MAS reported in China from January 1990 to November 2022 from the Wanfang data, CNKI, VIP, PubMed, and Embase databases were obtained, and their clinical data was retrospectively analyzed. Intergroup comparisons were carried out by using t test, Mann-Whitney U test, and χ2 test. Results:The 193 MAS patients had included 42 males and 151 females, with the median first-visit age of females being younger than males. The typical triad group had accounted for 46.1% of patients, and the middle first-visit and diagnosis age was younger than the atypical group. The primary reason for first-visit in males of MAS was fibrous dysplasia (FD), whilst that in females of MAS was peripheral precocious puberty (PPP). FD has occurred in 84.5% of the patients, with an average age of onset age being 6.1 years old, and 90% was ≤ 16 years of age. Endocrine hyperfunction was found in 79.3% of the patients, with a higher proportion in females compared with males ( P<0.05). Pituitary involvement was seen in 21.8% of the patients, and the incidence of craniofacial FD and cranial nerve compression was significantly higher in those with elevated growth hormone (GH) than without ( P<0.05). Café-au-Lait Spots were noted in 86.5% of the patients, and 28.3% (28/99) had located on the different side of FD. Conclusion:Most MAS patients had atypical manifestations and multi-systemic involvement. It is more common and occurs earlier in females. The most common reasons for initial diagnosis in male and female patients were FD and PPP, respectively. Patients with elevated GH should be examined for cranial nerve compression.
