Aguilar-Riera Cristina, Clemente María, González-Llorens Núria, Mogas Eduard, Campos-Martorell Ariadna, Fàbregas Anna, Biagetti Betina, Vázquez Elida, Yeste Diego
Pediatric Endocrinology Service, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
CIBER Enfermedades Raras, Instituto Carlos III, Madrid, Spain.
Clin Diabetes Endocrinol. 2023 Oct 31;9(1):5. doi: 10.1186/s40842-023-00153-6.
Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2-6% of all intracranial neoplasms. Delayed puberty, growth retardation, galactorrhea and weight gain are common features at presentation in pediatric patients. Functional tumors constitute a vast majority (90%) of PPAs, with the most frequent being prolactinomas.
A retrospective review of the clinical features and outcomes of 7 pediatric patients with pituitary macroadenomas was conducted. We included PPAs in patients under 18 years at diagnosis with diameters larger than 10 mm by magnetic resonance (MRI). Six patients were males (85%), with age at diagnosis ranging from 8 to 15 (median 14 ± 2.8SDS). The primary symptoms that led to medical attention were growth retardation, gigantism and secondary amenorrhea. The visual field was reduced in three cases (42%). Suprasellar extension was present in 3 subjects, and one had a giant adenoma. Adenomas were clinically functioning in 6 patients (85%) (three prolactinomas, two somatropinomas, one secreting FSH and one no-producer). The prolactinomas responded to treatment with cabergoline. For the rest, one required transsphenoidal surgery and the other three both surgery and radiotherapy. All patients undergoing radiotherapy had secondary panhypopituitarism. In relation to the genetic studies, two patients presented a pathogenic mutation of the AIP gene and one of the MEN1.
Pediatric pituitary macroadenomas are a distinct entity, mostly found in males and with a predominance of functional tumors leading to detrimental effects on growth and puberty in addition to neuro-ophthalmological manifestations. It is important to perform genetic studies in patients with macroadenomas appearing under the age of 18 years as genetic and syndromic associations are more frequent in this age group.
垂体腺瘤（PPAs）在儿童和青少年时期并不常见，占所有颅内肿瘤的2%-6%。青春期延迟、生长发育迟缓、溢乳和体重增加是儿科患者就诊时的常见特征。功能性肿瘤占垂体腺瘤的绝大多数（90%），最常见的是泌乳素瘤。
对7例儿童垂体大腺瘤患者的临床特征和治疗结果进行了回顾性研究。我们纳入了诊断时年龄小于18岁、磁共振成像（MRI）显示直径大于10mm的垂体腺瘤患者。6例为男性（85%），诊断时年龄为8至15岁（中位年龄14±2.8标准差）。引起医疗关注的主要症状是生长发育迟缓、巨人症和继发性闭经。3例（42%）患者视野缩小。3例患者存在鞍上扩展，1例为巨大腺瘤。6例（85%）患者的腺瘤具有临床功能（3例泌乳素瘤、2例生长激素瘤、1例分泌促卵泡生成素瘤和1例无功能瘤）。泌乳素瘤对卡麦角林治疗有反应。其余患者中，1例需要经蝶窦手术，另外3例需要手术和放疗。所有接受放疗的患者均出现继发性全垂体功能减退。在基因研究方面，2例患者存在AIP基因的致病突变，1例存在MEN1基因的致病突变。
儿童垂体大腺瘤是一种独特的疾病实体，多见于男性，功能性肿瘤占主导，除神经眼科表现外，还会对生长和青春期产生不利影响。对18岁以下出现大腺瘤的患者进行基因研究很重要，因为这个年龄组中基因和综合征关联更为常见。
