WOFAPS 2025 8th World Congress of Pediatric Surgery

Huihui Gao ¹, Tingting Zheng ², Xiaoqin Xu ¹, Junwen Zhang ¹, Jiansong Chen ¹, Liying Sun ¹, Junfen Fu ¹

¹ Children's Hospital, Zhejiang University School of Medicine
² Zhejiang University

Objective To explore the clinical characteristics, health costs of patients with McCune-Albright Syndrome (MAS). Methods This was a descriptive analysis study. A total of 275 patients with McCune-Albright Syndrome were enrolled for questionnaires, who visited the department Children's Hospital, Zhejiang University School of Medicine and Chinese Organization for Rare Disorders -GULI(FD/MAS) Care center from February 2022 to May 2023. Patients were divided into 5 groups according to the age of 0~6, 7~<10,10~18 , 19~44, and ＞44years old. Patients were also divided in to three groups according to the Clinical characteristics. The clinical characteristics and health costs of McCune-Albright Syndrome were compared between the age groups. Their clinical data were collected and then analyzed by χ² test and Fisher exact test. Results The 275 patients including male patient 99 cases (36%) and female patients 176cases (64%). There were 53 cases (19.27%) aged < 7 years, 54 cases (19.64%) aged 7 -< 10 years, 63 cases (23.91%) aged 10 - < 18 years, 97 case (35.27%) aged 19 - < 44 years, and 8 cases (2.91%) aged ＞44 years old. Of these cases, 126 cases were presented with one triad of MAS （126/275,45.82%）, including female patients 66 cases (66/126,52.38%) and male patients 60 cases (60/126,47.62%). Of these 126 cases, 115 cases with fibrous dysplasia (115/126,91.27%), 10 cases with hyperfunctioning endocrinopathies (10/126,7.94%), 1 case with skin hyperpigmentation (1/126,0.79%), age distribution was most common in patients aged < 7 years. 85 cases were presented with two triads of MAS （85/275,30.91%）, including female patients 62 cases (62/85，72.94%) and male patients 23 cases (23/85, 27.06%). Of these 85 cases, 37 cases with fibrous dysplasia and skin hyperpigmentation (37/85,43.53%), 30 cases with fibrous dysplasia and hyperfunctioning endocrinopathies (30/85,35.29%), 18 cases with hyperfunctioning endocrinopathies and skin hyperpigmentation (18/85, 21.18%), age distribution was most common in patients aged < 7 years. 64 cases were presented with three triads of MAS (64/275, 23.27%), including female patients 48 cases (48/64，75.00%) and male patients 16 cases (16/64, 25.00%), age distribution was most common in patients aged < 7 years. From the onset of symptoms to diagnosis, 65 cases (65/275, 23.64%) had no referral, 153 cases (153/275, 55.64%) had 1-3 referrals, and 57 cases (57/275, 20.73%) had more than 4 referrals. However, in the past year, there were 151 families (151/275, 54.91%) with direct medical expenses of 0-10 000 RMB, 106 families (106/275, 38.55%) with direct medical expenses of 10-100 000 RMB, and 18 families (18/275, 6.55%) with direct medical expenses of more than 100 000 RMB. In the past year, 175 families (175/275, 63.64%), 91 families (91/275, 33.09%) and 9 families (9/275, 3.27%) had direct non-medical expenses of 100, 000 yuan to 100, 000 yuan, respectively. In the past year, 176 families (176/275, 64.00%), 90 families (90/275, 32.73%) and 9 families (9/275, 3.27%) spent less than 10 000 yuan,10 000-100 000 yuan and more than 100 000 yuan, respectively. Conclusion The age distribution of McCune-Albright syndrome can span childhood and adulthood. The most common age distribution of McCune-albright syndrome was mainly from 0 to 6 years old, and most of them are female. Most patients need multiple visits before diagnosis, especially patients with atypical clinical symptoms. The family economic burden is large, which needs the attention of the whole society.