垂体柄阻断综合征72例的MRI特征及临床表现
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摘要
目的分析垂体柄阻断综合征的MRI特征及临床表现,以提高对该病的认识及诊断水平。方法回顾性分析2013年至2018年间我院收治的72例经MRI诊断为垂体柄阻断综合征患者的影像及临床资料,将其按照垂体柄是否完全中断分为2组,对其影像、临床特点进行分析总结。结果 72例患者中垂体柄缺如者40例,其中2例合并全垂体功能减退,10例合并第二性征发育迟缓,4例合并第二性征缺如,1例伴智力障碍,2例伴肾上腺皮质功能减退,1例合并尿崩症;垂体柄明显变细者32例,其中1例合并全垂体功能减退,2例合并努南综合征,2例合并第二性征发育迟缓,2例合并尿崩症;72例患者均有生长发育迟缓且生长激素激发峰值<5μg/L。所有患者MRI均表现为垂体后叶异位,垂体柄缺如组中37例垂体前叶发育不良,垂体柄变细组中29例垂体前叶发育不良。结论垂体柄阻断综合征所有患者均以生长发育迟缓为主要临床表现,并伴发其他发育畸形,MRI诊断的特征性标志是垂体后叶异位,临床、实验室检查提示异常时,MRI是诊断此病最有效且唯一可靠的检查方法。
Objective:To analyze the MRI features and clinical manifestations of pituitary stalk block syndrome in order to improve the understanding and diagnosis of the disease. Methods:The imaging and clinical data of 72 patients with pituitary stalk obstruction syndrome diagnosed by MRI in our hospital from 2013 to 2018 were retrospectively analyzed. They were divided into two groups according to whether the stalk of pituitary was completely interrupted. Result:Among the 72 patients,40 had hypophyseal stalk defect,including 2 with hypophysias,10 with hypophysias,4 with hypophysias,1 with mental retardation,2 with hypofunction of adrenal cortex,1 with diabetes insipidus,32 with hypophysias,and 1 with hypophysias. There were 2 cases with Nunan syndrome,2 cases with secondary sexual retardation,2 cases with diabetes insipidus,and 72 cases with growth retardation and peak growth hormone stimulation<5 ug/L. All patients had posterior pituitary dysplasia on MRI. In the absence of pituitary stalk group,anterior pituitary hypoplasia was found in 37 cases and anterior pituitary hypoplasia in 29 cases. Conclusion:The main clinical manifestation of pituitary stalk obstruction syndrome is growth retardation and other developmental malformations.The characteristic sign of MRI diagnosis is ectopic posterior pituitary lobe. MRI is the most effective and only reliable method to diagnose the disease when clinical and laboratory examinations indicate abnormalities.
Objective:To analyze the MRI features and clinical manifestations of pituitary stalk block syndrome in order to improve the understanding and diagnosis of the disease. Methods:The imaging and clinical data of 72 patients with pituitary stalk obstruction syndrome diagnosed by MRI in our hospital from 2013 to 2018 were retrospectively analyzed. They were divided into two groups according to whether the stalk of pituitary was completely interrupted. Result:Among the 72 patients,40 had hypophyseal stalk defect,including 2 with hypophysias,10 with hypophysias,4 with hypophysias,1 with mental retardation,2 with hypofunction of adrenal cortex,1 with diabetes insipidus,32 with hypophysias,and 1 with hypophysias. There were 2 cases with Nunan syndrome,2 cases with secondary sexual retardation,2 cases with diabetes insipidus,and 72 cases with growth retardation and peak growth hormone stimulation<5 ug/L. All patients had posterior pituitary dysplasia on MRI. In the absence of pituitary stalk group,anterior pituitary hypoplasia was found in 37 cases and anterior pituitary hypoplasia in 29 cases. Conclusion:The main clinical manifestation of pituitary stalk obstruction syndrome is growth retardation and other developmental malformations.The characteristic sign of MRI diagnosis is ectopic posterior pituitary lobe. MRI is the most effective and only reliable method to diagnose the disease when clinical and laboratory examinations indicate abnormalities.
引文
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[7]Reynaud R,Albarel F,Saveanu A,et al. Pituitary stalk interruption syndrome in 83 patients:novel HESX1 mutation and severe hormonal prognosis in malformative forms[J]. Eur J Endocrinol,2011,164(4):457-465.
[8]李小荣,欧陕兴,金文胜,等.垂体柄阻断综合征的影像学诊断[J].实用放射学杂志,2008,24(11):1457-1458.
[9]Davis SW,Castinetti F,Carvalho LR,et al. Molecular mechanisms of pituitary organogenesis:in search of novel regulatory genes[J].Mol Cell Endocrinol,2010,323(1):4-19.
[10]Guo Q,Yang Y,Mu Y,et al. Pituitary stalk interruption syndrome in Chinese people[J]. Mol Cell Endocrinol,2010,323(1):4-19.
[11]Holder CA,Elster AD. Magnetization transfer imaging of the pituitary:further insights into the nature of the posterior “bright spot”[J]. J Comput Assit Tomogr,1997,21(2):171-174.
[12]Argyropoulou M. Magnetic resonance imaging in the diagnosis of growth hormone deficiency[J]. J Pediatr,1992,120(6):886-891.
[2]Barbeau C,Jouret B,Gallegosd,et al. Pituitary stalk transection syndrome[J]. Arch Pediatr,1998,5(3):274-279.
[3]程华,曾津津,李航,等.垂体柄阻断综合征的MRI表现及临床意义的相关性研究[J].临床放射学杂志,2008,27(6):821-824.
[4]李贝贝,任翠萍,李莹,等.垂体柄阻断综合征的临床特征及MRI诊断[J].实用放射学杂志,2013,29(5):698-700.
[5]Hamilton J,Blaser S,Daneman D. MR imaging in idiopathic growth hormone deficiency[J]. AJNR,1998,19(9):1609-1615.
[6]ArrigoT,WasniewskaM,DelucaF,etal.Cogenital adenohypophysis aplasia:Clinical features and analysis of the transcriptional factors for embryonic pituitary development[J].AJNR,1998,19(9):1609-1615.
[7]Reynaud R,Albarel F,Saveanu A,et al. Pituitary stalk interruption syndrome in 83 patients:novel HESX1 mutation and severe hormonal prognosis in malformative forms[J]. Eur J Endocrinol,2011,164(4):457-465.
[8]李小荣,欧陕兴,金文胜,等.垂体柄阻断综合征的影像学诊断[J].实用放射学杂志,2008,24(11):1457-1458.
[9]Davis SW,Castinetti F,Carvalho LR,et al. Molecular mechanisms of pituitary organogenesis:in search of novel regulatory genes[J].Mol Cell Endocrinol,2010,323(1):4-19.
[10]Guo Q,Yang Y,Mu Y,et al. Pituitary stalk interruption syndrome in Chinese people[J]. Mol Cell Endocrinol,2010,323(1):4-19.
[11]Holder CA,Elster AD. Magnetization transfer imaging of the pituitary:further insights into the nature of the posterior “bright spot”[J]. J Comput Assit Tomogr,1997,21(2):171-174.
[12]Argyropoulou M. Magnetic resonance imaging in the diagnosis of growth hormone deficiency[J]. J Pediatr,1992,120(6):886-891.