Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome
Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome
复制标题
DOI：
10.1159/000086745
复制
发表时间：
2005-01-01
期刊：
影响因子：
--
通讯作者：
Yoo, HW
中科院分区：
文献类型：
--
作者：
Choi, JH;Shin, YL;Yoo, HW
背景：内分泌异常，包括低钙血症、甲状腺功能障碍和身材矮小，与染色体22q11.2微缺失综合征相关。本研究旨在探讨22q11.2微缺失综合征患者内分泌异常的频率和临床特征。方法：我们分析了61例22q11.2微缺失综合征患者，这些患者是通过荧光原位杂交（FISH）验证微缺失诊断的，使用了22q11.2的DiGeorge综合征关键区（TUPLE1）探针和22q13的对照探针ARSA。测定血清总钙、总磷和完整甲状旁腺激素（PTH）水平，进行甲状腺功能检查，测定血清IGF-1和IGFBP-3水平。将患者的身高和体重与个体实足年龄进行比较。结果：低钙血症20例（32.8%），甲状旁腺功能减退8例（13.1%）。自身免疫性甲状腺疾病2例（3.3%），Graves病和桥本甲状腺炎各1例。10例（16.4%）患者身高低于第三百分位数，但其中9例血清IGF-1水平正常。结论：22q11.2染色体微缺失综合征患者具有不同的内分泌表现和临床表型。除了FISH分析外，这种微缺失综合征患者需要仔细的内分泌评估，特别是甲状旁腺功能低下或甲状腺功能障碍患者。版权所有(C) 2005 S. Karger AG，巴塞尔。
Background: Endocrine abnormalities, including hypocalcemia, thyroid dysfunction, and short stature, are associated with chromosome 22q11.2 microdeletion syndrome. This study was undertaken to examine the frequencies and clinical features of endocrine abnormalities in patients with 22q11.2 microdeletion syndrome. Methods: We analyzed 61 patients with 22q11.2 microdeletion syndrome diagnosed based on the verification of microdeletion by fluorescent in situ hybridization (FISH) using a probe of the DiGeorge syndrome critical region (TUPLE1) at 22q11.2 and a control probe, ARSA at 22q13. Serum total calcium, phosphorus, and intact parathyroid hormone (PTH) levels were measured, thyroid function test was performed, and serum IGF-1 and IGFBP-3 levels were also estimated. Height and weight of patients were compared with individual chronological ages. Results: Hypocalcemia was found in 20 patients (32.8%), and overt hypoparathyroidism in 8 (13.1%). Two patients (3.3%) showed autoimmune thyroid diseases, 1 each with Graves' disease and Hashimoto thyroiditis. Ten patients (16.4%) were below the third percentile in height, but the serum IGF-1 level was normal in 9 out of these 10 patients. Conclusion: Our findings show that patients with chromosome 22q11.2 microdeletion syndrome present with variable endocrine manifestations and variable clinical phenotypes. In addition to FISH analysis, careful endocrine evaluations are required in patients with this microdeletion syndrome, particularly for those with hypoparathyroidism or thyroid dysfunction. Copyright (C) 2005 S. Karger AG, Basel.