Xu Jia, Li Xi, Lv Chang-Sheng, Chen Ying, Wang Meng, Liu Jian-Feng, Gui Lai
Department of Maxillofacial Surgery, Plastic Surgery Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Beijing 100144, P.R. China.
Exp Ther Med. 2014 Sep;8(3):877-880. doi: 10.3892/etm.2014.1792. Epub 2014 Jun 19.
McCune-Albright syndrome (MAS) is a rare, post-zygotic (non-germline) disorder, characterized by hypersecretory endocrinopathies, fibrous dysplasia of the bone and café-au-lait macules. The most common endocrine dysfunction is gonadal hyperfunction; thus, hypersecretion of growth hormones (GHs) as a manifestation of endocrine hyperfunction in MAS is rarely reported. MAS affects both genders, although the majority of cases have been reported in young females. Atypical presentations of MAS, with only one or two of the classic symptoms, have been previously described, but remain particularly challenging due to the lack of a diagnostic phenotype. In patients with atypical MAS, analysis of mutations in the gene of the α-subunit of the stimulatory G-protein is limited; thus, diagnosis is based on clinical judgment. In the present study, a male with polyostotic fibrous dysplasia and GH-secreting pituitary adenomas, diagnosed with atypical MAS, was reported. The pituitary adenoma was effectively treated with radiotherapy and the patient underwent surgery for the polyostotic fibrous dysplasia, with marked improvements observed in appearance.
McCune-Albright综合征(MAS)是一种罕见的合子后(非生殖系)疾病,其特征为分泌亢进性内分泌病、骨纤维发育不良和咖啡斑。最常见的内分泌功能障碍是性腺功能亢进;因此,作为MAS内分泌功能亢进表现的生长激素(GHs)分泌过多很少被报道。MAS在男女中均可发生,不过大多数病例报道见于年轻女性。此前曾描述过MAS的非典型表现,即仅出现一两种经典症状,但由于缺乏诊断性表型,诊断仍极具挑战性。在非典型MAS患者中,对刺激性G蛋白α亚基基因的突变分析有限;因此,诊断基于临床判断。在本研究中,报告了一名患有多骨型纤维发育不良和分泌GH的垂体腺瘤的男性,诊断为非典型MAS。垂体腺瘤通过放疗得到有效治疗,患者接受了多骨型纤维发育不良的手术治疗,外观有明显改善。