Somatotropinoma

生长激素瘤
  • 文章类型: Journal Article
    小儿垂体腺瘤(pPAs)并不常见。因此,与成人垂体腺瘤(aPAs)相比,人们对其治疗后的表现和结局了解较少.
    对2005-2020年在纽约长老会医院/威尔康奈尔医学院(NYP/WCM)接受pPA内镜经鼻蝶手术(EETS)的所有患者进行回顾性图表回顾。确定了11名患者,和有关年龄的信息,性别,腺瘤特征,程序细节,并对结果进行了审查。还对文献进行了系统回顾,以比较EETS与显微经鼻蝶手术(METS)治疗pPA的结果。
    从2005-2020年,11名患者在NYP/WCM接受了PPA的EETS。手术平均年龄14.9±2.7岁,男性5例(45.5%)。10例腺瘤(90.9%)产生激素。在功能性腺瘤中,8例(80.0%)分泌PRL,2例(20.0%)分泌GH。最大腺瘤直径(MAD)1.2-5.1cm,中位数为1.55厘米。2例大泌乳素瘤患者发生海绵窦侵犯(CSI)。10例(90.9%)实现了总切除(GTR)。生化缓解发生在5/10(50.0%)。术后并发症记录8例(72.7%),包括尿崩症,垂体功能减退,鼻窦炎,体重增加,脑脊液漏,脑膜炎,和脑积水.对105例显微镜和175例内镜病例的系统文献回顾显示,产生激素的肿瘤的频率很高(83.6%),GTR(82.4%vs85.1%)和生化治愈(75.8%vs64.3%)的发生率相似。
    pPAs更有可能产生激素,并且可能比aPAs更具侵略性且难以治愈。EETS是一种有效的治疗方法,尽管并发症发生率可能高于成人人群。
    Pediatric pituitary adenomas (pPAs) are uncommon. Thus, their presentation and outcomes after treatment are less well-understood than those of pituitary adenomas in adulthood (aPAs).
    A retrospective chart review was conducted for all patients who underwent endoscopic endonasal transsphenoidal surgery (EETS) for pPA at NewYork-Presbyterian Hospital/Weill Cornell Medicine (NYP/WCM) from 2005-2020. Eleven patients were identified, and information pertaining to age, sex, adenoma characteristics, procedural details, and outcomes was reviewed. A systematic review of the literature was also performed to compare outcomes of EETS versus microscopic endonasal transsphenoidal surgery (METS) for pPA.
    From 2005-2020, 11 patients underwent EETS for pPA at NYP/WCM. Mean age at operation was 14.9 ± 2.7 years, and 5 patients (45.5%) were male. 10 adenomas (90.9%) were hormone-producing. Of the functional adenomas, 8 (80.0%) were PRL-secreting and 2 (20.0%) were GH-secreting. Maximum adenoma diameter (MAD) ranged from 1.2-5.1 cm, with a median of 1.55 cm. Cavernous sinus invasion (CSI) occurred in 2 patients with macroprolactinoma. Gross total resection (GTR) was achieved in 10 (90.9%). Biochemical remission occurred in 5/10 (50.0%). Post-operative complications were documented in 8 cases (72.7%) and included diabetes insipidus, hypopituitarism, sinusitis, weight gain, cerebrospinal fluid leak, meningitis, and hydrocephalus. Systematic literature review of 105 microscopic and 175 endoscopic cases revealed high frequency of hormone-producing tumors (83.6%) and similar rates of GTR (82.4% vs 85.1%) and biochemical cure (75.8% vs 64.3%).
    pPAs are more likely to be hormone producing and may be more aggressive and difficult to cure than aPAs. EETS is an effective treatment, although complication rates may be higher than in adult populations.
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  • 文章类型: Journal Article
    本研究描述了一例X连锁肢端畸形(X-LAG)的中国病例,并总结了所有报告病例的特征和治疗方法。
    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。
    This study described a Chinese case of X-linked acrogigantism (X-LAG) and summarized the characteristics and treatment of all reported cases.
    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.
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