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假性甲状旁腺功能减退症与GNAS表观遗传学缺陷：40例Albright遗传性骨营养不良患者的临床评价及分子学分析
Pseudohypoparathyroidism and GNAS Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients
Mantovani G, de Sanctis L, Barbieri AM  2010/4/30 15:16:01 
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J Clin Endocrinol Metab, 2010,
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Context:
The two main subtypes of pseudohypoparathyroidism (PHP), PHP-Ia and -Ib, are caused by mutations in GNAS exons 1-13 and methylation defects in the imprinted GNAS cluster, respectively. PHP-Ia patients show Albright hereditary osteodystrophy (AHO) and resistance toward PTH and additional hormones, whereas PHP-Ib patients do not have AHO, and hormone resistance appears to be limited to PTH and TSH. Recently, methylation defects have been detected in few patients with PHP and mild AHO, indicating a molecular overlap between the two forms.

Objectives:
The aim of the study was to screen patients with clinically diagnosed PHP-Ia for methylation defects and to investigate the presence of correlations between the molecular findings and AHO severity.

Patients and Methods:
We investigated differential methylation of GNAS regions and STX16 microdeletions in genomic DNA from 40 patients with sporadic AHO and multihormone resistance, with no mutations in Gsα-coding GNAS exons.

Results:
Molecular analysis showed GNAS cluster imprinting defects in 24 of the 40 patients analyzed. No STX16 deletion was detected. The presence of imprinting defects was not associated with the severity of AHO or with specific AHO signs.

Conclusions:
We report the largest series of the literature of patients with clinical AHO and multihormone resistance and no mutation in the Gsα gene. Our findings of frequent GNAS imprinting defects further confirm the existence of an overlap between molecular and clinical features of PHP-Ia and PHP-Ib and highlight the necessity of a new clinical classification of the disease that takes into account the recent knowledge on the molecular basis underlying these defects.
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多饮、多尿、全身乏力、闭经1年，体重增加、肝区不适半年——长海医院病例

曹晶珠  邹大进

 

解放军第二军医大学附属长海医院内分泌科

 

患者为中年女性，35岁，因“多饮、多尿、全身乏力、闭经1年，体重增加、肝区不适半年”于2008年8月入院。患者2007年感冒后出现多饮、多尿，每日饮水约10,000 ml，未予重视及诊治。2007年出现闭经，在外院妇产科就诊，先后予2次黄体酮肌肉注射，仍未来月经。半年前体重增加25 kg，肝区不适，肝功能示转氨酶升高。患者无便秘腹胀、无皮肤感染、无双下肢水肿，活动后稍感胸闷、气喘，夜尿增多，平均每小时1次。最大体重88.7 kg。既往史无特殊。月经史：初潮14岁，4/28～30，2008年6月。

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