Shota Hiroshima, Chihiro Taniguchi, Mika Inoue, Hirohito Sone, Keisuke Nagasaki
{"title":"22q11.2缺失综合征2例甲状腺毒症术后恢复时血清钙降低","authors":"Shota Hiroshima, Chihiro Taniguchi, Mika Inoue, Hirohito Sone, Keisuke Nagasaki","doi":"10.1111/cga.12486","DOIUrl":null,"url":null,"abstract":"The most common chromosomal microdeletion syndrome, 22q11.2 deletion syndrome (22qDS), mainly manifests as hypoparathyroidism, which varies from overt to subclinical presentation, and is often asymptomatic. 1 Parathyroid hormone (PTH) reserve, the response of PTH to the sodium bicarbonate infusion test, is reduced in many patients with 22qDS having normocalcemia. 2 22qDS is associated with high-autoimmune thyroid disease inci-dence. 3 Hypercalcemia due to thyrotoxicosis is rarely reported, which means that thyroid hormones affect calcium (Ca) metabolism. 4 22qDS hypocalcemia thyrotoxicosis 5 hypocalcemia and during thyrotoxicosis.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2022-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis\",\"authors\":\"Shota Hiroshima, Chihiro Taniguchi, Mika Inoue, Hirohito Sone, Keisuke Nagasaki\",\"doi\":\"10.1111/cga.12486\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The most common chromosomal microdeletion syndrome, 22q11.2 deletion syndrome (22qDS), mainly manifests as hypoparathyroidism, which varies from overt to subclinical presentation, and is often asymptomatic. 1 Parathyroid hormone (PTH) reserve, the response of PTH to the sodium bicarbonate infusion test, is reduced in many patients with 22qDS having normocalcemia. 2 22qDS is associated with high-autoimmune thyroid disease inci-dence. 3 Hypercalcemia due to thyrotoxicosis is rarely reported, which means that thyroid hormones affect calcium (Ca) metabolism. 4 22qDS hypocalcemia thyrotoxicosis 5 hypocalcemia and during thyrotoxicosis.\",\"PeriodicalId\":10626,\"journal\":{\"name\":\"Congenital Anomalies\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2022-08-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Congenital Anomalies\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/cga.12486\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Congenital Anomalies","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/cga.12486","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis
The most common chromosomal microdeletion syndrome, 22q11.2 deletion syndrome (22qDS), mainly manifests as hypoparathyroidism, which varies from overt to subclinical presentation, and is often asymptomatic. 1 Parathyroid hormone (PTH) reserve, the response of PTH to the sodium bicarbonate infusion test, is reduced in many patients with 22qDS having normocalcemia. 2 22qDS is associated with high-autoimmune thyroid disease inci-dence. 3 Hypercalcemia due to thyrotoxicosis is rarely reported, which means that thyroid hormones affect calcium (Ca) metabolism. 4 22qDS hypocalcemia thyrotoxicosis 5 hypocalcemia and during thyrotoxicosis.
期刊介绍:
Congenital Anomalies is the official English language journal of the Japanese Teratology Society, and publishes original articles in laboratory as well as clinical research in all areas of abnormal development and related fields, from all over the world. Although contributions by members of the teratology societies affiliated with The International Federation of Teratology Societies are given priority, contributions from non-members are welcomed.