Clinical materials and biological samples from a 5-year and 2-month-old female due to \"growth acceleration for 4 years\" were collected. Array comparative genomic hybrid (aCGH) and further verification were performed. All X-LAG cases from the PubMed and Web of Science databases were collected and summarized with available data.
The patient presented accelerating growth since 1 year, and her height reached 134.6 cm (+5.24 standard deviation score [SDS]) when she was 5-year and 2-month old. She also had coarsening facial features, snoring, and acral enlargement. Growth hormone (GH) was not suppressed by the glucose-GH inhibition test, and insulin-like growth factor 1 (IGF-1) and prolactin (PRL) levels were elevated. Pituitary MRI revealed a pituitary enlargement with a maximum diameter of 22.3 mm. Octreotide imaging indicated the presence of a pituitary adenoma. The tumor shrank slightly after 3 courses of somatostatin analog but without clinical or biochemical remissions, of which the GH nadir value was 9.4 ng/mL, and IGF-1 was elevated to 749 ng/mL. Therefore, she underwent transsphenoidal surgery. Immunohistochemistry showed GH-positive and PRL-positive cells in the pituitary adenoma. Xq26.3 microduplication of the patient\'s germline DNA was identified by aCGH. Of all 35 reported cases, females accounted for 71.43%. There were 93.10% and 53.83% patients with hyperprolactinemia and hyperinsulinemia, respectively. Pathology showed that 75.00% of cases were adenomas. Ninety percent of cases had germline variants. The clinical and biochemical remission rates were 78.26% and 82.61%, respectively. However, the rate of complication occurrence during therapy reached 80%.
It is important to recognize the possibility of X-LAG when a child under 2-year old presents overgrowth. Early diagnosis and treatment are of great importance for better treatment efficacy and clinical outcome.
收集了一名5岁和2个月大的女性的临床材料和生物样本,原因是“4年的生长加速”。进行阵列比较基因组杂种(aCGH)和进一步验证。收集来自PubMed和WebofScience数据库的所有X-LAG病例,并用可用数据进行总结。
患者自1年以来呈现加速增长,当她5岁零2个月大时,她的身高达到134.6cm(±5.24标准差[SDS])。她的面部特征也很粗糙,打鼾,和肢端增大。生长激素(GH)未被葡萄糖-GH抑制试验抑制,胰岛素样生长因子1(IGF-1)和催乳素(PRL)水平升高。垂体MRI显示垂体增大,最大直径为22.3mm。奥曲肽显像提示存在垂体腺瘤。生长抑素类似物3个疗程后,肿瘤略有缩小,但无临床或生化缓解。其中GH的最低点值为9.4ng/mL,IGF-1升高至749ng/mL。因此,她接受了经蝶窦手术。免疫组织化学显示垂体腺瘤中GH阳性和PRL阳性细胞。通过aCGH鉴定患者种系DNA的Xq26.3微重复。在所有35例报告的病例中,女性占71.43%。高催乳素血症和高胰岛素血症分别占93.10%和53.83%,分别。病理显示腺瘤占75.00%。90%的病例有生殖系变异。临床和生化缓解率分别为78.26%和82.61%,分别。然而,治疗期间并发症发生率达80%。
当2岁以下的儿童出现过度生长时,认识到X-LAG的可能性是很重要的。早期诊断和治疗对于更好的治疗效果和临床结局至关重要。