ESPE Abstracts

Objective Summarizing and analysing the clinical characteristics of 193 patients with McCune-Albright syndrome (MAS) in China to improve the understanding of MAS for early detection, diagnosis and management. Methods All MAS-themed case-report or case-series studies published by the Chinese between January 1990 and November 2022 were retrieved from the Wanfang Full Text, CNKI, China Science and Technology Journal, PubMed and Embase databases, and clinical data were collected. Intergroup comparison was performed using the t-test, Mann-Whitney U test, χ2 test and Fisher's exact probability methods. Results 1. A total of 927 articles were retrieved from the database, and 108 studies were finally included in the statistics, including 193 patients with MAS (42 males and 151 females). The onset age of females was earlier than males. The typical triad group accounted for 46.1%(89/193) of patients, and the first-visit and diagnosis age was earlier than the atypical group. 2. Fibrous dysplasia (FD), mainly polyostotic, occurred in 84.5%(163/193) of patients, with an average onset age of 6.1 (3.5, 10.0) years old and 90%≤16 years of age. Pathological fractures, mainly femoral, happened in 46.9%(53/113) of patients with FD, with an average onset age of 8.0 (4.0, 13.0) years old and 92.2% ≤ 18 years of age. 3. Endocrine hyperfunction happened in 79.3% of patients, with a higher proportion of females than males. Peripheral precocious puberty occurred earlier in females than males and earlier in females with ovarian cysts than without. Pituitary involvement accounted for 21.8% of patients. The incidence of craniofacial FD and cranial nerve compression in patients with elevated growth hormone(GH) was significantly higher than in normal patients. 4. The Cafe-au-Lait Spots (CALMs) happened in 86.5% of patients, most of which exhibited a scattered distribution. 30.4% of CALMs were located on different sides from FD, and at least 8.8% of CALMs crossed the midline. Conclusion: MAS, mainly atypical, has a multisystemic involvement, which is more common and occurs earlier in females than males. Most patients develop FD before age 18, as early diagnosis and evaluation are needed. Multiple endocrine glands can probably be involved, and regular imaging is recommended to detect potential glandular lesions. Patients with elevated GH should be aware of cranial nerve compression. CALMs are often irregularly distributed, as the extent of FD cannot only be determined by the distribution of CALMs.