{"title":"21-羟化酶缺乏导致典型先天性肾上腺增生的治疗障碍。","authors":"Kelsey B Eitel, Patricia Y Fechner","doi":"10.1210/clinem/dgae710","DOIUrl":null,"url":null,"abstract":"<p><p>Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare genetic condition that requires lifelong management from birth. Individuals with CAH and their families often face structural barriers to obtaining comprehensive care and treatment, including limited access to appropriate newborn screening, comprehensive care centers, and medications. Social and cultural barriers to care may include stigmatization, discrimination, and adverse medical experiences. At the individual and family level, comprehensive care may be affected by education, finances, health-care coverage, geographic location, and lack of social supports. These barriers are often further magnified for individuals living in underresourced countries. Inadequate access to comprehensive care and medications increases the risk of life-threatening adrenal crisis and disease-related comorbidities. This review article examines the current structural, sociocultural, and individual barriers that individuals with CAH and their families may face when managing their condition throughout their lifetime.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":"110 Supplement_1","pages":"S67-S73"},"PeriodicalIF":5.0000,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11749880/pdf/","citationCount":"0","resultStr":"{\"title\":\"Barriers to the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.\",\"authors\":\"Kelsey B Eitel, Patricia Y Fechner\",\"doi\":\"10.1210/clinem/dgae710\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare genetic condition that requires lifelong management from birth. Individuals with CAH and their families often face structural barriers to obtaining comprehensive care and treatment, including limited access to appropriate newborn screening, comprehensive care centers, and medications. Social and cultural barriers to care may include stigmatization, discrimination, and adverse medical experiences. At the individual and family level, comprehensive care may be affected by education, finances, health-care coverage, geographic location, and lack of social supports. These barriers are often further magnified for individuals living in underresourced countries. Inadequate access to comprehensive care and medications increases the risk of life-threatening adrenal crisis and disease-related comorbidities. This review article examines the current structural, sociocultural, and individual barriers that individuals with CAH and their families may face when managing their condition throughout their lifetime.</p>\",\"PeriodicalId\":50238,\"journal\":{\"name\":\"Journal of Clinical Endocrinology & Metabolism\",\"volume\":\"110 Supplement_1\",\"pages\":\"S67-S73\"},\"PeriodicalIF\":5.0000,\"publicationDate\":\"2025-01-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11749880/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Clinical Endocrinology & Metabolism\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1210/clinem/dgae710\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Endocrinology & Metabolism","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1210/clinem/dgae710","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Barriers to the Management of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare genetic condition that requires lifelong management from birth. Individuals with CAH and their families often face structural barriers to obtaining comprehensive care and treatment, including limited access to appropriate newborn screening, comprehensive care centers, and medications. Social and cultural barriers to care may include stigmatization, discrimination, and adverse medical experiences. At the individual and family level, comprehensive care may be affected by education, finances, health-care coverage, geographic location, and lack of social supports. These barriers are often further magnified for individuals living in underresourced countries. Inadequate access to comprehensive care and medications increases the risk of life-threatening adrenal crisis and disease-related comorbidities. This review article examines the current structural, sociocultural, and individual barriers that individuals with CAH and their families may face when managing their condition throughout their lifetime.
期刊介绍:
The Journal of Clinical Endocrinology & Metabolism is the world"s leading peer-reviewed journal for endocrine clinical research and cutting edge clinical practice reviews. Each issue provides the latest in-depth coverage of new developments enhancing our understanding, diagnosis and treatment of endocrine and metabolic disorders. Regular features of special interest to endocrine consultants include clinical trials, clinical reviews, clinical practice guidelines, case seminars, and controversies in clinical endocrinology, as well as original reports of the most important advances in patient-oriented endocrine and metabolic research. According to the latest Thomson Reuters Journal Citation Report, JCE&M articles were cited 64,185 times in 2008.