I. Madeira, D. Gilban, A. Bordallo, Clarice Medeiros, P. Collett-Solberg, F. Gazolla, C. Monteiro, Ana Luíza Mendes, Débora Ribeiro, Juliana Braga
{"title":"Congenital adrenal hyperplasia in siblings - case report","authors":"I. Madeira, D. Gilban, A. Bordallo, Clarice Medeiros, P. Collett-Solberg, F. Gazolla, C. Monteiro, Ana Luíza Mendes, Débora Ribeiro, Juliana Braga","doi":"10.25060/residpediatr-2019.v9n3-26","DOIUrl":null,"url":null,"abstract":"We report two cases, siblings, diagnosed with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the simple classic virilizing form. The female patient had her research started early after birth because of ambiguous genitalia, while the older sibling had her diagnosis delayed, since her clinical manifestations were noticed at around the age of 4. Patients were diagnosed with hormonal dosages and molecular analysis was performed, followed by treatment. This, a challenge, since patients required adjustment of glucocorticoid dose and mineralocorticoid association. In addition to the description of the cases, we present what is discussed in the literature about the disease, its classifications, clinical presentations, therapeutic options and follow-up.","PeriodicalId":338092,"journal":{"name":"Residência Pediátrica","volume":"466 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Residência Pediátrica","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25060/residpediatr-2019.v9n3-26","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
We report two cases, siblings, diagnosed with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in the simple classic virilizing form. The female patient had her research started early after birth because of ambiguous genitalia, while the older sibling had her diagnosis delayed, since her clinical manifestations were noticed at around the age of 4. Patients were diagnosed with hormonal dosages and molecular analysis was performed, followed by treatment. This, a challenge, since patients required adjustment of glucocorticoid dose and mineralocorticoid association. In addition to the description of the cases, we present what is discussed in the literature about the disease, its classifications, clinical presentations, therapeutic options and follow-up.
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