Guaraldi Federica, Storr Helen L, Ghizzoni Lucia, Ghigo Ezio, Savage Martin O
Division of Endocrinology, Diabetology and Metabolism, Department of Medical Sciences, University of Turin, Turin, Italy.
Horm Res Paediatr. 2014;81(3):145-55. doi: 10.1159/000357673. Epub 2014 Feb 11.
Pituitary adenomas, although rare in the paediatric age range and mostly benign, represent very challenging disorders for diagnosis and management. The recent identification of genetic alterations in young individuals with pituitary adenomas has broadened the scope of molecular investigations and contributed to the understanding of mechanisms of tumorigenesis. Recent identification of causative mutations of genes such as GNAS, PRKAR1A, MEN1 and AIP has introduced the concept of molecular screening of young apparently healthy family members. Population-based studies have reported a significantly higher number of affected subjects and genetic variations than expected. Radiological techniques have advanced, yet many microadenomas remain undetectable on scanning. However, experience with transsphenoidal and endoscopic pituitary surgery has led to higher rates of cure. Prolactinomas, corticotroph and somatotroph adenomas remain the most prevalent, with each diagnosis presenting its own challenges. As paediatric pituitary adenomas occur very infrequently within the paediatric age range, paediatric endocrine units cannot provide expert management in isolation. Consequently, close co-operation with adult endocrinology colleagues with experience of pituitary disease is strongly recommended.
垂体腺瘤在儿童年龄范围内虽然罕见且大多为良性，但却是诊断和管理方面极具挑战性的疾病。最近在患有垂体腺瘤的年轻个体中发现了基因改变，这拓宽了分子研究的范围，并有助于理解肿瘤发生机制。最近对GNAS、PRKAR1A、MEN1和AIP等基因致病突变的鉴定引入了对明显健康的年轻家庭成员进行分子筛查的概念。基于人群的研究报告称，受影响的受试者数量和基因变异比预期的要多得多。放射技术已经取得进展，但许多微腺瘤在扫描时仍无法检测到。然而，经蝶窦和内镜垂体手术的经验已使治愈率提高。催乳素瘤、促肾上腺皮质激素瘤和生长激素瘤仍然是最常见的，每种诊断都有其自身的挑战。由于儿童垂体腺瘤在儿童年龄范围内非常罕见，儿科内分泌科无法单独提供专家管理。因此，强烈建议与有垂体疾病经验的成人内分泌科同事密切合作。
