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Newly Diagnosed Hypoparathyroidism as the Initial Presentation of DiGeorge Syndrome in a 26-Year-Old Man.

作者信息

Shah Anvay, Sinnott Bridget

机构信息

Division of Endocrinology, Diabetes and Metabolism, Medical College of Georgia, Augusta, Georgia.

出版信息

AACE Clin Case Rep. 2022 Feb 7;8(4):181-182. doi: 10.1016/j.aace.2022.02.001. eCollection 2022 Jul-Aug.

DOI:10.1016/j.aace.2022.02.001
PMID:35959083
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9363511/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e856/9363511/3a0cffda515e/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e856/9363511/2163f07863bd/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e856/9363511/3a0cffda515e/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e856/9363511/2163f07863bd/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e856/9363511/3a0cffda515e/gr2.jpg

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Newly Diagnosed Hypoparathyroidism as the Initial Presentation of DiGeorge Syndrome in a 26-Year-Old Man.26岁男性以新发甲状旁腺功能减退症为DiGeorge综合征的首发表现
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本文引用的文献

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The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.22q11.2 缺失综合征：癌症易感性、血小板异常和血细胞减少症。
Am J Med Genet A. 2018 Oct;176(10):2121-2127. doi: 10.1002/ajmg.a.38474. Epub 2017 Sep 22.
2
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).22q11.2缺失综合征（迪格奥尔格综合征/腭心面综合征）中的恶性肿瘤
Am J Med Genet A. 2006 Apr 15;140(8):906-9. doi: 10.1002/ajmg.a.31199.
3
Phenotype of adults with the 22q11 deletion syndrome: A review.
美国临床内分泌医师协会（AACE）临床病例报告7/8月刊社论。
AACE Clin Case Rep. 2022 Aug 2;8(4):147. doi: 10.1016/j.aace.2022.06.003. eCollection 2022 Jul-Aug.
4
Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus.胎儿产前检测到同一 22q11.2 微缺失综合征后，产妇晚期诊断出 DiGeorge 综合征伴先天性甲状旁腺功能减退症。
BMJ Case Rep. 2022 May 20;15(5):e250350. doi: 10.1136/bcr-2022-250350.
22q11缺失综合征成年患者的表型：综述
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