{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T15:34:58Z","timestamp":1792164898175,"version":"4.4.0"},"reference-count":541,"publisher":"The Endocrine Society","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2000,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic 21-hydroxylase deficiency are exposed to excess androgens prenatally and are born with virilized external genitalia. Most patients cannot synthesize sufficient aldosterone to maintain sodium balance and may develop potentially fatal \u201csalt wasting\u201d crises if not treated. The disease is caused by mutations in the CYP21 gene encoding the steroid 21-hydroxylase enzyme. More than 90% of these mutations result from intergenic recombinations between CYP21 and the closely linked CYP21P pseudogene. Approximately 20% are gene deletions due to unequal crossing over during meiosis, whereas the remainder are gene conversions\u2014transfers to CYP21 of deleterious mutations normally present in CYP21P. The degree to which each mutation compromises enzymatic activity is strongly correlated with the clinical severity of the disease in patients carrying it. Prenatal diagnosis by direct mutation detection permits prenatal treatment of affected females to minimize genital virilization. Neonatal screening by hormonal methods identifies affected children before salt wasting crises develop, reducing mortality from this condition. Glucocorticoid and mineralocorticoid replacement are the mainstays of treatment, but more rational dosing and additional therapies are being developed.<\/jats:p>","DOI":"10.1210\/edrv.21.3.0398","type":"journal-article","created":{"date-parts":[[2014,1,8]],"date-time":"2014-01-08T13:25:45Z","timestamp":1389187545000},"page":"245-291","source":"Crossref","is-referenced-by-count":116,"title":["Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency*"],"prefix":"10.1210","volume":"21","author":[{"given":"Perrin C.","family":"White","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology (P.C.W.), University of Texas Southwestern Medical Center, Dallas, Texas 75390-9063"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phyllis W.","family":"Speiser","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology (P.W.S.), North Shore University Hospital and New York University School of Medicine, Manhasset, New York 11030"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2016,11,7]]},"reference":[{"key":"2020071612404365400_R1","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1056\/NEJM196306062682308","article-title":"The adrenogenital syndrome.","volume":"268","author":"Bongiovanni","year":"1963","journal-title":"N Engl J Med"},{"key":"2020071612404365400_R2","doi-asserted-by":"crossref","first-page":"7505","DOI":"10.1073\/pnas.81.23.7505","article-title":"HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation.","volume":"81","author":"White","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"2020071612404365400_R3","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1056\/NEJM198706113162406","article-title":"Congenital adrenal hyperplasia (1).","volume":"316","author":"White","year":"1987","journal-title":"N Engl J Med"},{"key":"2020071612404365400_R4","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1056\/NEJM198706183162506","article-title":"Congenital adrenal hyperplasia (2).","volume":"316","author":"White","year":"1987","journal-title":"N Engl J Med"},{"key":"2020071612404365400_R5","first-page":"1","article-title":"Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.","volume":"20","author":"Morel","year":"1991","journal-title":"Adv Hum Genet"},{"key":"2020071612404365400_R6","first-page":"221","article-title":"Regulation of the acute production of steroids in steroidogenic cells.","volume":"17","author":"Stocco","year":"1996","journal-title":"Endocr Rev"},{"key":"2020071612404365400_R7","doi-asserted-by":"crossref","first-page":"16339","DOI":"10.1074\/jbc.273.26.16339","article-title":"The mechanism of action of steroidogenic acute regulatory protein (StAR). 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