儿童期起病的生长激素缺乏症患者的MRI表现及基因型分析——与垂体功能减退严重程度的相关性
MRI findings and genotype analysis in patients with childhood onset growth hormone deficiency--correlation with severity of hypopituitarism.
作者信息
Zimmermann Anca, Schenk Jens-Peter, Grigorescu Sido Paula, Pfaffle Roland, Lazea Cecilia, Zimmermann Tim, Heinrich Udo, Weber Matthias M, Bettendorf Markus
机构信息
1st Clinic of Internal Medicine, Department of Endocrinology and Diabetology, Johannes Gutenberg University of Mainz, Germany.
出版信息
J Pediatr Endocrinol Metab. 2007 May;20(5):587-96. doi: 10.1515/jpem.2007.20.5.587.
AIM
To evaluate the relationship between pituitary size, PIT1 and PROP1 genotype, and the severity of childhood onset growth hormone deficiency (coGHD).
PATIENTS
Forty-four patients with coGHD (34 M; 9.7 +/- 4.1 years): severe isolated (SI) GHD (n = 14); partial isolated (PI) GHD (n=13); multiple pituitary hormone deficiencies (MPHD) (n=17).
RESULTS
Pituitary abnormalities were found in 7/14 patients with SIGHD (50%), 16/17 patients with MPHD (94.1%), and no patient with PIGHD. Mean pituitary height (PHT SDS) was significantly lower in MPHD than in SIGHD and PIGHD. Pituitary height SDS and pituitary volume (PV) SDS correlated with IGF-I SDS and stimulated GH peaks in the SIGHD and MPHD groups. No PIT1 mutation was identified. The PROP1 AG deletion (301-302) was present in five related patients with MPHD and more severe phenotype than the other patients with MPHD.
CONCLUSIONS
Pituitary abnormalities corresponded to the severity of coGHD. Genetic alterations were identified in five related patients with MPHD.
目的
评估垂体大小、PIT1和PROP1基因型与儿童期起病的生长激素缺乏症（coGHD）严重程度之间的关系。
患者
44例coGHD患者（34例男性；9.7±4.1岁）：严重孤立性（SI）生长激素缺乏症（n = 14）；部分孤立性（PI）生长激素缺乏症（n = 13）；多种垂体激素缺乏症（MPHD）（n = 17）。
结果
在14例SI生长激素缺乏症患者中有7例（50%）发现垂体异常，17例MPHD患者中有16例（94.1%）发现垂体异常，而PI生长激素缺乏症患者中未发现垂体异常。MPHD患者的平均垂体高度（垂体高度标准差积分）显著低于SI生长激素缺乏症和PI生长激素缺乏症患者。在SI生长激素缺乏症和MPHD组中，垂体高度标准差积分和垂体体积（PV）标准差积分与胰岛素样生长因子-I标准差积分和刺激后的生长激素峰值相关。未发现PIT1突变。5例相关的MPHD患者存在PROP1基因AG缺失（301 - 302），其表型比其他MPHD患者更严重。
结论
垂体异常与coGHD的严重程度相对应。在5例相关的MPHD患者中发现了基因改变。
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