Abstract：
BACKGROUND: We report four pediatric subjects with Cushing\'s disease (CD) diagnosed in the Czech Republic. We focus on initial symptoms of Cushing\'s syndrome (CS) which can lead to early diagnosis, on typical symptoms of CS in children, their age and sex distribution, the mean length of symptoms prior to diagnosis, indication for examination, post-cure growth, sexual development and pituitary function in our four CD patients after transsphenoidal pituitary surgery (TSS). We describe the diagnostic process leading to confirmation of CD and we emphasize the biochemical and radiological diagnostic difficulties.
CONCLUSIONS: Pediatric CD has a number of features distinct from adult CD. Our retrospective analysis confirmed the presence of growth retardation and change in facial appearance with development of moon face as the first symptoms of CS. According to our observation, growth retardation is prior to development of moon face. The other typical symptoms frequently seen in pediatric patients are pseudo-precocious puberty in both sexes, hirsutism in pubertal girls due to excessive adrenal androgen secretion and pubertal delay. A corticotropin-releasing hormone (CRH) test and especially bilateral inferior petrosal sinus sampling for ACTH (BIPSS) contribute to confirming the diagnosis of CD and excluding ectopic ACTH syndrome in children with unvisible adenoma on pituitary magnetic resonance imaging (MRI).
CONCLUSIONS: Pediatric CD has a number of features distinct from adult CD. Our retrospective analysis confirmed the presence of growth retardation and change in facial appearance with development of moon face as the first symptoms of CS. According to our observation, growth retardation is prior to development of moon face. The other typical symptoms frequently seen in pediatric patients are pseudo-precocious puberty in both sexes, hirsutism in pubertal girls due to excessive adrenal androgen secretion and pubertal delay. A corticotropin-releasing hormone (CRH) test and especially bilateral inferior petrosal sinus sampling for ACTH (BIPSS) contribute to confirming the diagnosis of CD and excluding ectopic ACTH syndrome in children with unvisible adenoma on pituitary magnetic resonance imaging (MRI).
摘要：
背景：我们报道了四名在捷克共和国诊断为库欣病（CD）的儿科受试者。我们专注于库欣综合征（CS）的初始症状，这可以导致早期诊断，关于儿童CS的典型症状，他们的年龄和性别分布，诊断前症状的平均长度，检查适应症,固化后生长，我们的4例CD患者经蝶窦垂体手术（TSS）后的性发育和垂体功能。我们描述了导致CD确认的诊断过程，并强调了生化和放射学诊断困难。
结论：小儿CD具有许多不同于成人CD的特征。我们的回顾性分析证实了生长迟缓和面部外观变化的存在，月亮脸的发育是CS的第一个症状。根据我们的观察,生长迟缓是在月球表面发育之前。在儿科患者中常见的其他典型症状是两性的假性性早熟，由于肾上腺雄激素分泌过多和青春期延迟，青春期女孩多毛症。促肾上腺皮质激素释放激素（CRH）测试，尤其是双侧岩下窦采样ACTH（BIPSS）有助于在垂体磁共振成像（MRI）上确认CD的诊断并排除异位ACTH综合征。
结论：小儿CD具有许多不同于成人CD的特征。我们的回顾性分析证实了生长迟缓和面部外观变化的存在，月亮脸的发育是CS的第一个症状。根据我们的观察,生长迟缓是在月球表面发育之前。在儿科患者中常见的其他典型症状是两性的假性性早熟，由于肾上腺雄激素分泌过多和青春期延迟，青春期女孩多毛症。促肾上腺皮质激素释放激素（CRH）测试，尤其是双侧岩下窦采样ACTH（BIPSS）有助于在垂体磁共振成像（MRI）上确认CD的诊断并排除异位ACTH综合征。
