摘要
目的 报道1例以矮小就诊的MAS综和征的病例。方法 回顾分析1例以矮小就诊的MAS综合征患儿的临床资料，并检索相关文献，总结其临床特点。结果 患儿女，4岁9月，主因生长迟缓4年余就诊，既往无骨折及阴道出血史，查体双侧乳房增大，全身皮肤未见牛奶咖啡斑，子宫附件B超提示子宫增大，右侧附件区囊性暗区，雌激素及生长激素明显增高，四肢长骨片未见异常，血样本GNAS基因检测阳性。结论 MAS综和征是一种罕见、复杂的综和征，可涉及多系统、多器官，临床症状多样，诊断和治疗均较复杂且具有挑战性。全面、充分认识MAS的各系统病变，适时、及时、规范评估和处理相关的疾病可改善预后。
关键词： 矮小；性早熟；卵巢囊肿；综合征；文献复习
Abstract
Objective To report a case of MAS syndrome with short stature. Methods The clinic data of MAS syndrome in a child were retrospectively analyzed, the related literatures were reviewed and its clinical features were summarized. Results A girl, four years and nine months old, had growth retardation、precocious puberty、the uterus was enlarged, the right adnexa area was cystic dark area, estrogen and growth hormone were obviously increased, no abnormality was found in the long bone slices of the limbs, and the GNAS gene was positive in the blood samples, had no history of fracture、cafe-au-lait spots, or vaginal bleeding. Conclusion s MAS syndrome is a rare and complex syndrome involving multiple systems and organs. The clinical symptoms are varied and the diagnosis and treatment are complicated and challenging. The prognosis of patients with MAS can be improved by fully understanding the lesions of various systems, timely and standardized evaluation and management of the related diseases.
Key words： Short stature; Precocious puberty; Ovarian cyst; Syndrome; Literature review
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