Structural Pituitary Abnormalities Associated With CHARGE Syndrome
Structural Pituitary Abnormalities Associated With CHARGE Syndrome
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DOI：
10.1210/jc.2012-3467
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发表时间：
2013-04-01
影响因子：
5.8
通讯作者：
Dattani, Mehul T.
中科院分区：
文献类型：
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作者：
Gregory, Louise C.;Gevers, Evelien F.;Dattani, Mehul T.
简介：CHARGE综合征是一种多系统疾病，除了Kallmann综合征/孤立性低促性腺激素性性腺功能减退症外，还与垂体前叶发育不全（APH）有关。然而，结构异常，如异位垂体后叶（EPP）尚未在这些patients.Objective：本研究的目的是：1）描述CHARGE综合征和结构异常垂体之间的联系; 2）调查CHD7变异，这是在65%的CHARGE患者中确定的，是否在视隔发育不良/垂体功能减退症中常见。我们描述了2例CHARGE和EPP的特点。结果：1例患者存在EPP、APH、GH、TSH和可能的LH/FSH缺乏，另1例患者存在EPP、APH、GH、TSH、LH/FSH和ACTH缺乏，均具有CHARGE综合征的特征。这两个人都有CHD7的变异，这些变异在对照组或CHARGE患者的国际数据库中是新的和未检测到的，但也存在于他们未受影响的母亲中。没有CHD7的变异体中检测到的患者与隔视神经发育不良/垂体功能减退症没有额外的CHARGE features. Conclusion：我们报告了一个新的关联CHARGE综合征和结构异常的垂体在2例CHD7的变化是未知的意义。然而，CHD7突变是一种罕见的原因隔视神经发育不良或垂体功能减退症。我们的数据表明，有必要对CHARGE综合征患者的垂体功能/解剖进行评价。（临床内分泌代谢杂志98：E737-E743，2013）
Introduction: CHARGE syndrome is a multisystem disorder that, in addition to Kallmann syndrome/isolated hypogonadotrophic hypogonadism, has been associated with anterior pituitary hypoplasia (APH). However, structural abnormalities such as an ectopic posterior pituitary (EPP) have not yet been described in such patients.Objective: The aims of the study were: 1) to describe the association between CHARGE syndrome and a structurally abnormal pituitary gland; and 2) to investigate whether CHD7 variants, which are identified in 65% of CHARGE patients, are common in septo-optic dysplasia/hypopituitarism.Methods: We describe 2 patients with features of CHARGE and EPP. CHD7 was sequenced in these and other patients with septo-optic dysplasia/hypopituitarism.Results: EPP, APH, and GH, TSH, and probable LH/FSH deficiency were present in 1 patient, and EPP and APH with GH, TSH, LH/FSH, and ACTH deficiency were present in another patient, both of whom had features of CHARGE syndrome. Both had variations in CHD7 that were novel and undetected in control cohorts or in the international database of CHARGE patients, but were also present in their unaffected mothers. No CHD7 variants were detected in the patients with septo-optic dysplasia/hypopituitarism without additional CHARGE features.Conclusion: We report a novel association between CHARGE syndrome and structural abnormalities of the pituitary gland in 2 patients with variations in CHD7 that are of unknown significance. However, CHD7 mutations are an uncommon cause of septo-optic dysplasia or hypopituitarism. Our data suggest the need for evaluation of pituitary function/anatomy in patients with CHARGE syndrome. (J Clin Endocrinol Metab 98: E737-E743, 2013)