Keil Margaret F, Stratakis Constantine A
Pediatric Endocrinology Inter-Institute Training Program, Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
J Pediatr Endocrinol Metab. 2009 Jan;22(1):47-53. doi: 10.1515/jpem.2009.22.1.47.
Tumors of the hypothalamic-pituitary unit have been linked to genetic syndromes that are associated with midfacial abnormalities.
We hypothesized that mutations of genes that affect the development of the face (and consequently of the anterior pituitary) may be present in children with ACTH-producing pituitary adenomas, and if this is true then facial measurements would be different from those predicted by parental features.
We studied 20 children with corticotropinomas and a control group and their parents. All facial measurements were expressed according to standard deviation scores.
Significant differences were seen between the children with pituitary adenomas and their parents for vertical facial height measures: nasal length (p < 0.001), lower facial height (p < 0.03) and overall facial height (p < 0.01).
We conclude that some of the indices of midline craniofacial development, in particular those affecting the vertical axis, are different in children with corticotroph adenomas producing ACTH.
下丘脑 - 垂体单位的肿瘤与伴有面中部异常的遗传综合征有关。
我们推测，产生促肾上腺皮质激素（ACTH）的垂体腺瘤患儿可能存在影响面部（进而影响垂体前叶）发育的基因突变，如果情况属实，那么面部测量结果将与根据父母特征预测的结果不同。
我们研究了20名患有促肾上腺皮质激素瘤的儿童及其对照组以及他们的父母。所有面部测量结果均根据标准差分数表示。
垂体腺瘤患儿与其父母在垂直面部高度测量方面存在显著差异：鼻长（p < 0.001）、下部面部高度（p < 0.03）和整体面部高度（p < 0.01）。
我们得出结论，产生ACTH的促肾上腺皮质激素腺瘤患儿的一些中线颅面发育指标，特别是那些影响垂直轴的指标，有所不同。
