Makhlouf Taha Z, Mahareeq Maryam S, Abumazen Areej, Manasrah Tasneem, Badareen Mera, Zighan Mahmoud S
Faculty of Medicine, Palestine Polytechnic University, Hebron, Palestine.
Pediatrics Department, Hebron Governmental Hospital, Hebron, Palestine.
J Investig Med High Impact Case Rep. 2025 Jan-Dec;13:23247096251367692. doi: 10.1177/23247096251367692. Epub 2025 Aug 21.
McCune-Albright syndrome (MAS) is a rare disorder, occurring in 1 in 100 000 to 1 in 1 000 000 live births, caused by post-zygotic somatic mutations in the GNAS gene. This leads to fibrous dysplasia (FD), café-au-lait (CAL) skin pigmentation, and hyperfunctioning endocrinopathies. We present a 32-month-old girl with recurrent vaginal bleeding, bilateral breast enlargement, and multiple irregular CAL spots crossing the midline. Imaging revealed ovarian cysts and skeletal lesions consistent with FD. Laboratory findings indicated gonadotropin-independent precocious puberty. A clinical diagnosis of MAS was made, and genetic testing was deemed unnecessary. MAS presents with variable severity, and early diagnosis requires clinical recognition of its hallmark features. Genetic testing can support the diagnosis, though its reliability may vary due to mosaicism. Management is symptomatic, focusing on controlling endocrine dysfunction and minimizing skeletal complications. Emerging therapies offer promise, but no definitive cure exists. Early recognition and management are crucial for optimizing outcomes.
McCune - Albright综合征（MAS）是一种罕见疾病，活产婴儿中的发病率为十万分之一至百万分之一，由GNAS基因的合子后体细胞突变引起。这会导致纤维性发育异常（FD）、牛奶咖啡斑（CAL）皮肤色素沉着和内分泌功能亢进性内分泌病。我们报告一名32个月大的女童，有反复阴道出血、双侧乳房增大以及多个越过中线的不规则CAL斑。影像学检查显示卵巢囊肿和与FD相符的骨骼病变。实验室检查结果表明为非促性腺激素依赖性性早熟。做出了MAS的临床诊断，认为无需进行基因检测。MAS的严重程度各不相同，早期诊断需要临床识别其标志性特征。基因检测可以支持诊断，但其可靠性可能因嵌合现象而有所不同。治疗以对症为主，重点是控制内分泌功能障碍并将骨骼并发症降至最低。新兴疗法带来了希望，但尚无根治方法。早期识别和管理对于优化治疗结果至关重要。
