Paediatric Endocrinology Unit, University of Florence, Anna Meyer Children's Hospital, Florence, Italy.
Clin Endocrinol (Oxf). 2010 Jun;72(6):839-44. doi: 10.1111/j.1365-2265.2009.03736.x. Epub 2009 Oct 26.
Monoallelic microdeletion of chromosome 22q11 (22q11DS) is considered to be the commonest human microdeletion syndrome. Abnormalities of thyroid function are sporadically reported in this syndrome, but very few studies have specifically assessed this issue, and thyroid morphology has not been systematically studied.
To evaluate the prevalence of abnormalities of thyroid function and morphology in a cohort of paediatric and adult patients with 22q11DS.
Thirty patients with 22q11DS (median age 9.7, range 1.5-43.9 years) were studied. In all subjects, serum free-T(3), free-T(4), TSH, thyroperoxidase, thyroglobulin, and TSHr auto-antibodies, as well as thyroid ultrasonographic data, were evaluated and compared with age- and sex-matched healthy control groups, for paediatric and adult patients.
Fourteen (46.6%) patients showed thyroid hypoplasia involving the entire gland. In all the patients, the volume of the left lobe of the thyroid was significantly reduced (P < 0.01). Among the subjects with thyroid hypoplasia, 10 out of 14 (71%) showed a concomitant heart malformation, a condition that was present in five (31%) of the subjects with a normal thyroid volume (P < 0.05). Seven (23.3%) cases of subclinical hypothyroidism and one (3.3%) case of overt hypothyroidism were identified. Three (10%) patients were positive for thyroid auto-antibodies. Of the patients with overt and subclinical hypothyroidism, five out of eight (62.5%) patients showed thyroid hypoplasia.
This study confirms the presence of alterations of thyroid function in 22q11DS, and also suggests a frequent occurrence of abnormalities in thyroid morphology in these subjects. Patients with 22q11DS should be monitored for thyroid function, and thyroid ultrasound screening should be considered, especially in those patients with changes in thyroid function or congenital heart malformations. The possible relationship between developmental abnormalities in the heart and the thyroid gland should be confirmed.
22q11 号染色体单体微缺失（22q11DS）被认为是最常见的人类微缺失综合征。该综合征中甲状腺功能异常的报道较为罕见，但很少有研究专门评估该问题，也未对甲状腺形态进行系统研究。
评估 22q11DS 患儿和成人队列中甲状腺功能和形态异常的患病率。
研究了 30 名 22q11DS 患者（中位年龄 9.7 岁，范围 1.5-43.9 岁）。对所有患者进行血清游离 T3、游离 T4、TSH、甲状腺过氧化物酶、甲状腺球蛋白和 TSHr 自身抗体以及甲状腺超声数据评估，并与儿科和成人患者的年龄和性别匹配的健康对照组进行比较。
14 名（46.6%）患者出现整个腺体的甲状腺发育不全。所有患者的甲状腺左叶体积均显著减小（P < 0.01）。在甲状腺发育不全的患者中，14 名患者中的 10 名（71%）存在心脏畸形，而在甲状腺体积正常的患者中，5 名（31%）存在心脏畸形（P < 0.05）。发现 7 例亚临床甲状腺功能减退和 1 例显性甲状腺功能减退。3 名（10%）患者甲状腺自身抗体阳性。在显性和亚临床甲状腺功能减退的患者中，8 名患者中有 5 名（62.5%）存在甲状腺发育不全。
本研究证实 22q11DS 存在甲状腺功能改变，还提示这些患者甲状腺形态异常较为常见。22q11DS 患者应监测甲状腺功能，应考虑进行甲状腺超声筛查，尤其是那些甲状腺功能改变或先天性心脏畸形的患者。应证实心脏和甲状腺发育异常之间的可能关系。
