{"corpus_id":4834149,"paper_sha":"73380d27d84f74952a33d7d1e709eaf0389e1a36","doi":"10.1210/jc.2009-2631","arxiv_id":null,"pmid":20823466,"pmcid":"PMC2936060","mag_id":1972087695,"dblp_id":null,"acl_id":null,"title":"Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.","year":2010,"publication_date":"2010-09-01","venue":"Journal of Clinical Endocrinology and Metabolism","journal":{"name":"The Journal of clinical endocrinology and metabolism","pages":"\n          4133-60\n        ","volume":"95 9"},"journal_issn":null,"journal_title":null,"publication_types":["JournalArticle","Review"],"pubmed_pub_types":["Journal Article","Practice Guideline","Research Support, Non-U.S. Gov't"],"s2_fields_of_study":["Medicine"],"reference_count":366,"citation_count":1259,"influential_citation_count":105,"is_open_access":true,"arxiv_categories":null,"arxiv_license":null,"arxiv_journal_ref":null,"mesh_headings":[{"d":"Adrenal Hyperplasia, Congenital","mj":false,"qs":[{"q":"diagnosis","mj":false,"ui":"Q000175"},{"q":"epidemiology","mj":false,"ui":"Q000453"},{"q":"genetics","mj":true,"ui":"Q000235"},{"q":"therapy","mj":true,"ui":"Q000628"}],"ui":"D000312"},{"d":"Algorithms","mj":false,"ui":"D000465"},{"d":"Comorbidity","mj":false,"ui":"D015897"},{"d":"Evidence-Based Practice","mj":false,"ui":"D055317"},{"d":"Female","mj":false,"ui":"D005260"},{"d":"Humans","mj":false,"ui":"D006801"},{"d":"Infant, Newborn","mj":false,"ui":"D007231"},{"d":"Models, Biological","mj":false,"ui":"D008954"},{"d":"Neonatal Screening","mj":false,"ui":"D015997"},{"d":"Pregnancy","mj":false,"ui":"D011247"},{"d":"Steroid 21-Hydroxylase","mj":false,"qs":[{"q":"genetics","mj":true,"ui":"Q000235"}],"ui":"D013255"}],"chemicals":[{"n":"Steroid 21-Hydroxylase","ui":"D013255","reg":"EC 1.14.14.16"}],"comments_corrections":null,"source_flags":5,"s2_open_access_pdf_url":"https://academic.oup.com/jcem/article-pdf/95/9/4133/20288104/jcem4133.pdf","s2_open_access_landing_url":"https://www.semanticscholar.org/paper/73380d27d84f74952a33d7d1e709eaf0389e1a36","s2_open_access_license":"CCBYNCND","s2_open_access_status":"HYBRID","pmc_open_access_pdf_url":null,"pmc_open_access_landing_url":null,"pmc_open_access_license":null,"pmc_open_access_status":null,"unpaywall_open_access_pdf_url":null,"unpaywall_open_access_landing_url":null,"unpaywall_open_access_license":null,"unpaywall_open_access_status":null,"abstract":"OBJECTIVE\nWe developed clinical practice guidelines for congenital adrenal hyperplasia (CAH).\n\n\nPARTICIPANTS\nThe Task Force included a chair, selected by The Endocrine Society Clinical Guidelines Subcommittee (CGS), ten additional clinicians experienced in treating CAH, a methodologist, and a medical writer. Additional experts were also consulted. The authors received no corporate funding or remuneration.\n\n\nCONSENSUS PROCESS\nConsensus was guided by systematic reviews of evidence and discussions. The guidelines were reviewed and approved sequentially by The Endocrine Society's CGS and Clinical Affairs Core Committee, members responding to a web posting, and The Endocrine Society Council. At each stage, the Task Force incorporated changes in response to written comments.\n\n\nCONCLUSIONS\nWe recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests. We recommend that prenatal treatment of CAH continue to be regarded as experimental. The diagnosis rests on clinical and hormonal data; genotyping is reserved for equivocal cases and genetic counseling. Glucocorticoid dosage should be minimized to avoid iatrogenic Cushing's syndrome. Mineralocorticoids and, in infants, supplemental sodium are recommended in classic CAH patients. We recommend against the routine use of experimental therapies to promote growth and delay puberty; we suggest patients avoid adrenalectomy. Surgical guidelines emphasize early single-stage genital repair for severely virilized girls, performed by experienced surgeons. Clinicians should consider patients' quality of life, consulting mental health professionals as appropriate. At the transition to adulthood, we recommend monitoring for potential complications of CAH. 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