Orphanet journal of rare diseases · 2026
Diagnostic delay, misdiagnosis, and patient-reported psychosocial burden among Chinese individuals with McCune-Albright syndrome: a national cross-sectional survey.
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Yuan Ke, Zhu Yilin, Chen Yonghua, Zhu Jianfang, Fang Yanlan, Wang Chunlin
Аннотация
BACKGROUND: McCune-Albright Syndrome (MAS) is a rare, mosaic genetic disorder characterized by fibrous dysplasia of bone, endocrine hyperfunction, and skin pigmentation. Despite increasing clinical recognition, real-world data on diagnostic timelines, disease burden, and psychosocial impact among MAS patients-particularly in China-remain scarce.
METHODS: We conducted a national, cross-sectional survey of Chinese MAS patients between November 2024 to June 2025 using a structured 95-item online questionnaire disseminated via the McCune-Albright Syndrome Clinical Research Consortium (MASCRC) database and the Bone Care Center patient community. Responses were de-duplicated and managed within the MASCRC data platform. Data were collected on demographics, initial symptoms, diagnostic delay, treatment history, quality of life, psychological distress, and support needs. Descriptive statistics, chi-square tests, and Mann-Whitney U tests were performed.
RESULTS: A total of 152 valid responses were analyzed from MAS patients across 28 of 34 provincial-level regions, including 94 females (61.84%) and 58 males (38.16%), with a median age of 10.10 years (IQR: 7.80-15.00). The most common first symptoms were bone involvement (61.18%), peripheral precocious puberty (36.84%), and café-au-lait pigmentation (37.50%). Initial hyperthyroidism and Cushing syndrome were reported in 3.95% and 1.32% of cases, respectively. Median age at symptom onset was 5.50 years; median age at diagnosis was 6.00 years. Although the majority of patients were diagnosed within 1 year (median delay: 0 months, IQR: 0-6), 21.05% experienced a diagnostic delay of ≥ 1 year, and 27.63% reported prior misdiagnosis. GNAS mutation testing was performed in 48.68% of patients, with a detection rate of 36.49%. Long-term consistent treatment was reported by 37.00% of respondents, with regular follow-up (62.50%), medication (38.82%), and surgery (36.18%) being the most common strategies. Impact on daily life was substantial: 46.05% of patients reported moderate to severe disruption in education or employment, and family/economic burden was rated most severe (mean score 3.21/5). Self-reported psychological distress was common, with 78.29% reporting anxiety-related symptoms and 37.50% reporting depressive symptoms, yet only 15.79% accessed professional support. Over 90% expressed unmet needs for expert medical resources, while 79.61% desired improved insurance reimbursement, and 46.05% wished for peer-support platforms.
CONCLUSIONS: MAS patients in China report substantial clinical and psychosocial burdens, with a subset experiencing prolonged diagnostic journeys and misdiagnoses. These findings highlight a need for earlier recognition, integrated multidisciplinary care, and structured patient support.
METHODS: We conducted a national, cross-sectional survey of Chinese MAS patients between November 2024 to June 2025 using a structured 95-item online questionnaire disseminated via the McCune-Albright Syndrome Clinical Research Consortium (MASCRC) database and the Bone Care Center patient community. Responses were de-duplicated and managed within the MASCRC data platform. Data were collected on demographics, initial symptoms, diagnostic delay, treatment history, quality of life, psychological distress, and support needs. Descriptive statistics, chi-square tests, and Mann-Whitney U tests were performed.
RESULTS: A total of 152 valid responses were analyzed from MAS patients across 28 of 34 provincial-level regions, including 94 females (61.84%) and 58 males (38.16%), with a median age of 10.10 years (IQR: 7.80-15.00). The most common first symptoms were bone involvement (61.18%), peripheral precocious puberty (36.84%), and café-au-lait pigmentation (37.50%). Initial hyperthyroidism and Cushing syndrome were reported in 3.95% and 1.32% of cases, respectively. Median age at symptom onset was 5.50 years; median age at diagnosis was 6.00 years. Although the majority of patients were diagnosed within 1 year (median delay: 0 months, IQR: 0-6), 21.05% experienced a diagnostic delay of ≥ 1 year, and 27.63% reported prior misdiagnosis. GNAS mutation testing was performed in 48.68% of patients, with a detection rate of 36.49%. Long-term consistent treatment was reported by 37.00% of respondents, with regular follow-up (62.50%), medication (38.82%), and surgery (36.18%) being the most common strategies. Impact on daily life was substantial: 46.05% of patients reported moderate to severe disruption in education or employment, and family/economic burden was rated most severe (mean score 3.21/5). Self-reported psychological distress was common, with 78.29% reporting anxiety-related symptoms and 37.50% reporting depressive symptoms, yet only 15.79% accessed professional support. Over 90% expressed unmet needs for expert medical resources, while 79.61% desired improved insurance reimbursement, and 46.05% wished for peer-support platforms.
CONCLUSIONS: MAS patients in China report substantial clinical and psychosocial burdens, with a subset experiencing prolonged diagnostic journeys and misdiagnoses. These findings highlight a need for earlier recognition, integrated multidisciplinary care, and structured patient support.