{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:56:04Z","timestamp":1791219364656,"version":"4.1.0"},"reference-count":127,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Steroid Biochemistry and Molecular Biology"],"published-print":{"date-parts":[[2017,1]]},"DOI":"10.1016\/j.jsbmb.2016.06.015","type":"journal-article","created":{"date-parts":[[2016,7,3]],"date-time":"2016-07-03T10:08:59Z","timestamp":1467540539000},"page":"2-11","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":85,"special_numbering":"PA","title":["Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia"],"prefix":"10.1016","volume":"165","author":[{"given":"Alan A.","family":"Parsa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria I.","family":"New","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jsbmb.2016.06.015_bib0005","series-title":"Pediatric Adrenal Diseases, Endocr Dev.","first-page":"202","article-title":"Ancient history of congenital adrenal hyperplasia","author":"New","year":"2011"},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0010","doi-asserted-by":"crossref","DOI":"10.1210\/en.2014-1879","article-title":"150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio\u2019s classic paper from 1865","volume":"156","author":"Delle-Piane","year":"2015","journal-title":"Endocrinology"},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0015","series-title":"Genetic Steroid Disorders","article-title":"Congenital adrenal hyperplasia owing to 21-Hydroxylase deficiency","author":"New","year":"2013"},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0020","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1056\/NEJMra021561","article-title":"Congenital adrenal hyperplasia","volume":"349","author":"Speiser","year":"2003","journal-title":"N. Engl. J. Med."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0025","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1111\/j.1365-2265.1986.tb03249.x","article-title":"Is salt wasting in congenital adrenal hyperplasia due to the same gene as the fasciculata defect?","volume":"24","author":"Stoner","year":"1986","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0030","doi-asserted-by":"crossref","first-page":"1362","DOI":"10.1056\/NEJM200011093431903","article-title":"Adrenomedullary dysplasia and hypofunction inpatients with classic 21-hydroxylase deficiency","volume":"343","author":"Merke","year":"2000","journal-title":"N. Engl. J. Med."},{"issue":"6 (June)","key":"10.1016\/j.jsbmb.2016.06.015_bib0035","doi-asserted-by":"crossref","first-page":"1710","DOI":"10.1210\/jc.2010-2699","article-title":"Final adult height in children with congenital adrenal hyperplasia treated with growth hormone","volume":"96","author":"Lin-Su","year":"2011","journal-title":"J. Clin. End.o Metab."},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0040","first-page":"1511","article-title":"Growth hormone therapy alone or in combination with GnRH analogue therapy to improve the height deficit in children with CAH","volume":"86","author":"Quintos","year":"2001","journal-title":"J. Clin. Endocrin. Metab."},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0045","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1159\/000365570","article-title":"Increased prevalence of testicular adrenal rest tumours during adolescence in congenital adrenal hyperplasia","volume":"82","author":"Claahsen-van der Grinten","year":"2014","journal-title":"Horm. Res. Paediatr."},{"issue":"5","key":"10.1016\/j.jsbmb.2016.06.015_bib0050","doi-asserted-by":"crossref","DOI":"10.1111\/cen.12033","article-title":"Prevalence and long term follow-up outcomes of testicular adrenal rest tumours in children and adolescent males with congenital adrenal hyperplasia","volume":"78","author":"Aycan","year":"2013","journal-title":"Clin. Endocrinol."},{"issue":"3","key":"10.1016\/j.jsbmb.2016.06.015_bib0055","doi-asserted-by":"crossref","first-page":"383","DOI":"10.7863\/jum.2012.31.3.383","article-title":"Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia: prevalence and sonographic hormonal, and seminal characteristics","volume":"31","author":"Delfino","year":"2012","journal-title":"J. Ultrasound Med."},{"issue":"9","key":"10.1016\/j.jsbmb.2016.06.015_bib0060","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1016\/j.crad.2005.04.006","article-title":"Embryology of the adrenal glands and its relevance to diagnostic imaging","volume":"60","author":"Barwick","year":"2005","journal-title":"Clin. Radiol."},{"issue":"12","key":"10.1016\/j.jsbmb.2016.06.015_bib0065","doi-asserted-by":"crossref","first-page":"4583","DOI":"10.1210\/jc.2007-0383","article-title":"Testicular adrenal rest tumors and leydig and sertoli cell function in boys with classical congenital adrenal hyperplasia","volume":"92","author":"Martinez-Aguayo","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.jsbmb.2016.06.015_bib0070","doi-asserted-by":"crossref","first-page":"155","DOI":"10.6065\/apem.2015.20.3.155","article-title":"Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia","volume":"20","author":"Yu","year":"2015","journal-title":"Ann. Pediatr. Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.jsbmb.2016.06.015_bib0075","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1530\/EJE-11-0828","article-title":"Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia","volume":"166","author":"Falhammar","year":"2012","journal-title":"Eur. J. Endocrinol."},{"issue":"34","key":"10.1016\/j.jsbmb.2016.06.015_bib0080","doi-asserted-by":"crossref","first-page":"20916","DOI":"10.1016\/S0021-9258(17)45304-X","article-title":"1990: Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombination vaccinia virus","volume":"265","author":"Tusie-Luna","year":"1990","journal-title":"J. Biol. Chem."},{"issue":"5","key":"10.1016\/j.jsbmb.2016.06.015_bib0085","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1210\/jcem-55-5-817","article-title":"Late-onset steroid 21-hydroxylase deficiency: a variant of classical congenital adrenal hyperplasia","volume":"55","author":"Kohn","year":"1982","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0090","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1210\/jcem-64-3-609","article-title":"Genetic defects of steroidogenesis in premature pubarche","volume":"64","author":"Temeck","year":"1987","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0095","doi-asserted-by":"crossref","first-page":"1570","DOI":"10.1210\/jcem.84.5.5683","article-title":"High incidence of molecular defects of the CYP21 gene in patients with premature adrenarche","volume":"84","author":"Dacou-Voutetakis","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0100","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.jsbmb.2014.06.004","article-title":"Premature adrenarche: etiology, clinical findings, and consequences","volume":"145","author":"Voutilainen","year":"2015","journal-title":"J. Steroid Biochem. Mol. Biol."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0105","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1046\/j.1365-2265.1998.3811205.x","article-title":"Carrier status for steroid 21 hydroxylase deficiency is only one factor in the variable phenotype of acne","volume":"48","author":"Ostlere","year":"1998","journal-title":"Clin. Endocrinol."},{"issue":"2","key":"10.1016\/j.jsbmb.2016.06.015_bib0110","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1507\/endocrj.K07E-057","article-title":"Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood","volume":"55","author":"Kashimada","year":"2008","journal-title":"Endocr. J."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0115","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1136\/archdischild-2012-303070","article-title":"Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance","volume":"99","author":"Knowles","year":"2014","journal-title":"Arch. Dis. Child."},{"issue":"2","key":"10.1016\/j.jsbmb.2016.06.015_bib0120","doi-asserted-by":"crossref","first-page":"265","DOI":"10.14310\/horm.2002.1555","article-title":"Gonadotropin releasing hormone analog treatment in children with congenital adrenal hyperplasia complicated by central precocious puberty","volume":"14","author":"Guven","year":"2015","journal-title":"Hormones"},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0125","first-page":"4205","article-title":"Extensive clinical experience: nonclassical 21-hydroxylase deficiency","volume":"91","author":"New","year":"1999","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"6","key":"10.1016\/j.jsbmb.2016.06.015_bib0130","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1067\/mob.2000.108020","article-title":"21-hydroxylase deficient nonclassic adrenal hyperplasia is a progressive disorder: a multicenter study","volume":"183","author":"Moran","year":"2000","journal-title":"Am. J. Obstet. Gynecol."},{"issue":"5","key":"10.1016\/j.jsbmb.2016.06.015_bib0135","doi-asserted-by":"crossref","first-page":"1570","DOI":"10.1210\/jc.2008-1582","article-title":"Clinical and molecular characterization of a cohort of 161 unrelated women withnonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members","volume":"94","author":"Bidet","year":"2009","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0140","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1210\/edrv-9-3-295","article-title":"Molecular biology of steroid hormone synthesis","volume":"9","author":"Milller","year":"1988","journal-title":"Endocr. Rev."},{"issue":"5","key":"10.1016\/j.jsbmb.2016.06.015_bib0145","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1507\/endocrj1954.34.635","article-title":"Studies on lipoprotein and adrenal steroidogenesis: roles of low density lipoprotein- and high density lipoprotein- cholesterol in steroid production in cultrued human adrenocortical cells","volume":"35","author":"Higashijima","year":"1987","journal-title":"Endocrinol. Jpn."},{"issue":"6","key":"10.1016\/j.jsbmb.2016.06.015_bib0150","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1016\/j.bbalip.2007.02.012","article-title":"Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter","volume":"1771","author":"Miller","year":"2007","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0155","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/S0083-6729(08)61044-4","article-title":"Transcriptional regulation of the genes encoding the cytochrome P-450 steroid hydroxylases","volume":"51","author":"Parker","year":"1995","journal-title":"Vitam. Horm."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0160","article-title":"Defects of adrenal steroidogenesis","volume":"7\/E","author":"Yau","year":"2015"},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0165","doi-asserted-by":"crossref","first-page":"2841","DOI":"10.1073\/pnas.83.9.2841","article-title":"Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene","volume":"83","author":"Higashi","year":"1986","journal-title":"Proc. Natl. Acad. Sci."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0170","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1073\/pnas.82.2.521","article-title":"Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA: the major histocompatibility complex in man","volume":"82","author":"Carroll","year":"1985","journal-title":"Proc. Natl. Acad. Sci."},{"issue":"14","key":"10.1016\/j.jsbmb.2016.06.015_bib0175","doi-asserted-by":"crossref","first-page":"5111","DOI":"10.1073\/pnas.83.14.5111","article-title":"Structure of human steroid 21-hydroxylase gene","volume":"83","author":"White","year":"1986","journal-title":"Proc. Natl. Acad. Sci."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0180","article-title":"Biochemical and genetic diagnosis of 21-hydroxylase deficiency","volume":"50","author":"Falhammar","year":"2015","journal-title":"Endocrine"},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0185","first-page":"1635","article-title":"Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction","volume":"80","author":"Wilson","year":"1995","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0190","article-title":"A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance","author":"khattab","year":"2015","journal-title":"Ann. N. Y. Acad. Sci."},{"issue":"7","key":"10.1016\/j.jsbmb.2016.06.015_bib0195","doi-asserted-by":"crossref","first-page":"2611","DOI":"10.1073\/pnas.1300057110","article-title":"Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21 hydroxylase deficiency","volume":"110","author":"New","year":"2013","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0200","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1111\/j.1365-2265.2011.04123.x","article-title":"Steroid 21-hydroxylase gene mutation specturm in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia","volume":"75","author":"Marino","year":"2011","journal-title":"Clin. Endocrinol."},{"issue":"3","key":"10.1016\/j.jsbmb.2016.06.015_bib0205","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1210\/jcem.85.3.6441","article-title":"Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from souther Germany","volume":"85","author":"Krone","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0210","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1016\/S0140-6736(53)92414-3","article-title":"Assessment of adrenocortical activity by assay of 17-ketogenic steroids in urine","volume":"1","author":"Norymberski","year":"1953","journal-title":"Lancet"},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0215","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1111\/j.1365-2265.1975.tb01553.x","article-title":"Early diagnosis of congenital adrenal hyperplasia by measurement of 17-hydroxyprogesterone","volume":"4","author":"Youssefnejadian","year":"1975","journal-title":"Clin. Endocrinol."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0220","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1136\/adc.47.251.62","article-title":"Diagnosis of congenital adrenal hyperplasia by measurement of plasma 17-hydroxyprogesterone","volume":"47","author":"Barnes","year":"1972","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0225","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1111\/j.1651-2227.1979.tb04990.x","article-title":"17-hydroxyprogesterone in normal children and congenital adrenal hyperplasia. Measurement in serum by radioimmunoassay after thin-layer chromatography","volume":"68","author":"Petersen","year":"1979","journal-title":"Acta Paediatr. Scand."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0230","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1542\/peds.106.3.595","article-title":"The importance of newborn screening","volume":"106","author":"Howse","year":"2000","journal-title":"Pediatrics"},{"issue":"6","key":"10.1016\/j.jsbmb.2016.06.015_bib0235","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1001\/archpedi.1997.02170430027005","article-title":"State to state variations in newborn screening policies","volume":"151","author":"Stoddard","year":"1997","journal-title":"Arch. Pediatr. Adolesc. Med."},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0240","first-page":"281","article-title":"Principles and practice of mass screening for disease","volume":"65","author":"Wilson","year":"1968","journal-title":"Bol. Oficina Sanit. Panam."},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0245","doi-asserted-by":"crossref","first-page":"317","DOI":"10.2471\/BLT.07.050112","article-title":"Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years","volume":"86","author":"Andermann","year":"2008","journal-title":"Bull. World Health Organ."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0250","doi-asserted-by":"crossref","first-page":"U71","DOI":"10.1530\/eje.0.151u071","article-title":"Neonatal screening for congenital adrenal hyperplasia","volume":"151","author":"van der Kamp","year":"2004","journal-title":"Eur. J. Endocrinol."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0255","first-page":"866","article-title":"Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"81","author":"Pang","year":"1988","journal-title":"Pediatrics"},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0260","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1210\/jcem-69-6-1133","article-title":"Serum adrenal steroid concentration in premature infants","volume":"69","author":"Lee","year":"1989","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0265","doi-asserted-by":"crossref","first-page":"1830","DOI":"10.1093\/clinchem\/38.9.1830","article-title":"Identification of the steroids in 4 neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays","volume":"38","author":"Wong","year":"1992","journal-title":"Clin. Chem."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0270","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/S0022-3476(97)70321-4","article-title":"Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels","volume":"130","author":"Allen","year":"1997","journal-title":"J. Pediatr."},{"issue":"7","key":"10.1016\/j.jsbmb.2016.06.015_bib0275","doi-asserted-by":"crossref","first-page":"3904","DOI":"10.1210\/jc.2004-2136","article-title":"Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age raher than on birth weight","volume":"90","author":"van der Kamp","year":"2005","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0280","doi-asserted-by":"crossref","first-page":"5790","DOI":"10.1210\/jc.2002-021732","article-title":"Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value","volume":"88","author":"Olgemoller","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0285","first-page":"68","article-title":"Determination of 17-hydroxyprogesterone in plasme by stable isotope dilution\/benchtop liquid tandem mass spectrometry","volume":"53","author":"Wudy","year":"2000","journal-title":"Horm. Res."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0290","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1203\/00006450-199507000-00013","article-title":"17-alpha-hydroxyprogesterone, 4-adnrostenedione, and testosterone profiled by routine stable isotope dilution\/gas chromatography- mass spectrometry in plasma of children","volume":"38","author":"Wudy","year":"1995","journal-title":"Pediatr. Res."},{"issue":"8","key":"10.1016\/j.jsbmb.2016.06.015_bib0295","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1016\/j.steroids.2009.02.008","article-title":"False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17OHP) values","volume":"74","author":"Fingerhut","year":"2009","journal-title":"Steroids"},{"issue":"5","key":"10.1016\/j.jsbmb.2016.06.015_bib0300","doi-asserted-by":"crossref","DOI":"10.1159\/000439380","article-title":"Concurrent confirmation and differential diagnosis of congenital adrenal hyperplasia from dried blood spots: applications of a second tier LC-MS\/MS assay in a cross-border cooperation for newborn screening","volume":"84","author":"Monostori","year":"2015","journal-title":"Horm. Res. Paediatr."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0305","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1515\/jpm-2013-0154","article-title":"Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation","volume":"42","author":"Seo","year":"2014","journal-title":"J. Perinat. Med."},{"issue":"8","key":"10.1016\/j.jsbmb.2016.06.015_bib0310","doi-asserted-by":"crossref","first-page":"3687","DOI":"10.1210\/jc.2003-032235","article-title":"Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia","volume":"89","author":"Minutti","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"154","key":"10.1016\/j.jsbmb.2016.06.015_bib0315","first-page":"154ra135","article-title":"Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units","volume":"4","author":"Sunders","year":"2012","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0320","doi-asserted-by":"crossref","first-page":"pe17","DOI":"10.1017\/S001667231500018X","article-title":"Next generation sequencing for newborn screening: are we there yet?","volume":"97","author":"Friedman","year":"2015","journal-title":"Genet. Res."},{"issue":"2","key":"10.1016\/j.jsbmb.2016.06.015_bib0325","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1210\/jcem-57-2-320","article-title":"Genotyping steroid 21-hydroxylase deficiency: hormonal reference data","volume":"57","author":"New","year":"1983","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0330","article-title":"The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17 hydroxyprogesteronem, can lead to false-positive diagnosis","author":"Ambroziak","year":"2015","journal-title":"Clin. Endocrinol."},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0335","doi-asserted-by":"crossref","first-page":"296","DOI":"10.3109\/09513590.2014.994599","article-title":"4, LC-MS\/MS improes screening towards 21-hydroxylase deficiency","volume":"31","author":"Ambroziak","year":"2015","journal-title":"Gynecol. Endocrinol."},{"issue":"9","key":"10.1016\/j.jsbmb.2016.06.015_bib0340","doi-asserted-by":"crossref","first-page":"3451","DOI":"10.1210\/jc.2006-0062","article-title":"Reproductive outcome of women with 21-hydroxylase deficient nonclassic adrenal hyperplasia","volume":"91","author":"Moran","year":"2006","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"650","key":"10.1016\/j.jsbmb.2016.06.015_bib0345","first-page":"667","article-title":"High frequency of nonclassical steroid 21 hydroxylase deficiency","volume":"37","author":"Speiser","year":"1985","journal-title":"Am. J. Hum. Genet."},{"issue":"3263","key":"10.1016\/j.jsbmb.2016.06.015_bib0350","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1126\/science.126.3263.77.a","article-title":"Lack of congenital malformations in normal human pregnancies after transabdominal amniocentesis","volume":"126","author":"Parrish","year":"1957","journal-title":"Science"},{"issue":"7412","key":"10.1016\/j.jsbmb.2016.06.015_bib0355","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/S0140-6736(65)90864-0","article-title":"Diagnosis of the adrenogenital syndrome before birth","volume":"2","author":"Jeffcoate","year":"1965","journal-title":"Lancet"},{"issue":"5","key":"10.1016\/j.jsbmb.2016.06.015_bib0360","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/S0022-3476(74)80023-5","article-title":"1974: Amniotic fluid testosterone: implications for the prenatal diagnosis of congenital adrenal hyperplasia","volume":"84","author":"Frasier","year":"1974","journal-title":"J. Pediatr."},{"issue":"2","key":"10.1016\/j.jsbmb.2016.06.015_bib0365","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/S0022-3476(75)80498-7","article-title":"Letter: elevated amniotic fluid concentration of 17 alpha-hydroxyprogesterone in congenital adrenal hyperplasia","volume":"86","author":"Frasier","year":"1975","journal-title":"J. Pediatr."},{"issue":"8126","key":"10.1016\/j.jsbmb.2016.06.015_bib0370","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1016\/S0140-6736(79)91789-6","article-title":"Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) by HLA typing","volume":"313","author":"Pollack","year":"1979","journal-title":"Lancet"},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0375","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/pd.1970010305","article-title":"Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amnitic fluid of mid-pregnancy: comparison with HLA typing in 17 pregnancies at risk for CAH","volume":"1","author":"Forest","year":"1981","journal-title":"Prenat. Diagn."},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0380","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1210\/jcem-70-4-838","article-title":"First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency)","volume":"70","author":"Speiser","year":"1990","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0385","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/uog.14636","article-title":"Procedure related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta analysis","volume":"45","author":"Akolekar","year":"2015","journal-title":"Ultrasound Obstet. Gynecol."},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0390","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1053\/j.semperi.2005.06.004","article-title":"Invasive prenatal diagnostic procedures","volume":"29","author":"Evans","year":"2005","journal-title":"Semin. Perinatol."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0395","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/j.1447-0756.2011.01717.x","article-title":"Similar risk for hemangiomas after amniocentesis and transabdominal chorionic villus sampling","volume":"38","author":"Bauland","year":"2012","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0400","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1086\/301800","article-title":"Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis","volume":"62","author":"Lo","year":"1998","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.jsbmb.2016.06.015_bib0405","first-page":"D003252","article-title":"Amniocentesis and chorionic villus sampling for prenatal diagnosis","author":"Alfirevic","year":"2003","journal-title":"Cochrane Database Syst. Rev."},{"issue":"5","key":"10.1016\/j.jsbmb.2016.06.015_bib0410","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1055\/s-0032-1324723","article-title":"An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia","volume":"30","author":"New","year":"2012","journal-title":"Semin. Reprod. Med."},{"issue":"13","key":"10.1016\/j.jsbmb.2016.06.015_bib0415","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1002\/pd.467","article-title":"Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions","volume":"22","author":"Mao","year":"2002","journal-title":"Prenat. Diagn."},{"issue":"12","key":"10.1016\/j.jsbmb.2016.06.015_bib0420","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1093\/hmg\/5.12.2039","article-title":"Identification of non-amplifying CYP21 genes when using PCR based diagnosis of 21 hydroxylase deficiency in congenital adrenal hyperplasia(CAH) affected pedigrees","volume":"5","author":"Day","year":"1996","journal-title":"Hum. Mol. Genet."},{"issue":"7","key":"10.1016\/j.jsbmb.2016.06.015_bib0425","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1002\/pd.4139","article-title":"Position statement from the aneuploidy screening committee on behalf of the board of the international society for prenatal diagnosis","volume":"33","author":"Benn","year":"2013","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0430","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s10897-012-9564-0","article-title":"Noninvasive prenatal testing\/noninvasive prenatal diagnosis: the position of the national society of genetic counselors","volume":"22","author":"Devers","year":"2013","journal-title":"J. Genet. Couns."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0435","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1097\/01.AOG.0000423819.85283.f4","article-title":"Committee opinion No. 545: noninvasive prenatal testing for fetal aneuploidy","volume":"120","author":"American College of Obstetricians Gynecologists Committee on Genetics","year":"2012","journal-title":"Obstet. Gynecol."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0440","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1002\/pd.219","article-title":"First trimester fetal sex determination in maternal serum using real time PCR","volume":"21","author":"Costa","year":"2001","journal-title":"Prenat. Diagn."},{"issue":"April (4)","key":"10.1016\/j.jsbmb.2016.06.015_bib0445","first-page":"2013","article-title":"New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: french cohort of 258 cases (2002\u20132011)","volume":"99","author":"Tardy-Guidollet","year":"2014","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"5","key":"10.1016\/j.jsbmb.2016.06.015_bib0450","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/S0022-3476(84)80310-8","article-title":"Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency","volume":"105","author":"David","year":"1984","journal-title":"J. Pediatr."},{"issue":"12","key":"10.1016\/j.jsbmb.2016.06.015_bib0455","doi-asserted-by":"crossref","first-page":"5651","DOI":"10.1210\/jcem.86.12.8072","article-title":"Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies","volume":"86","author":"New","year":"2001","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0460","first-page":"135","article-title":"11 beta-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess","volume":"18","author":"White","year":"1997","journal-title":"Endocr. Rev."},{"issue":"1\u20133","key":"10.1016\/j.jsbmb.2016.06.015_bib0465","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/0960-0760(93)90125-G","article-title":"Prenatal diagnosis and treatment of 21-hydroxylase deficiency","volume":"45","author":"Forest","year":"1993","journal-title":"J. Steroid Biochem. Mol. Biol."},{"issue":"9","key":"10.1016\/j.jsbmb.2016.06.015_bib0470","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1080\/15265161.2010.507652","article-title":"Description and defense of prenatal diagnosis and treatment with low-dose dexamethasone for congenital adrenal hyperplasia","volume":"10","author":"New","year":"2010","journal-title":"Am. J. Bioeth."},{"issue":"3","key":"10.1016\/j.jsbmb.2016.06.015_bib0475","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.beem.2015.01.005","article-title":"Fetal endocrine therapy for congenital adrenal hyperplasia should not be done","volume":"29","author":"Miller","year":"2015","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"issue":"13","key":"10.1016\/j.jsbmb.2016.06.015_bib0480","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1001\/jama.1997.03540370067039","article-title":"How safe is long-term prenatal glucocorticoid treatment?","volume":"277","author":"Seckl","year":"1997","journal-title":"JAMA"},{"issue":"12","key":"10.1016\/j.jsbmb.2016.06.015_bib0485","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1080\/15265161.2010.530916","article-title":"Vindication of prenatal diagnosis and treatment of congenital adrenal hyperplasia withlow dose dexamethasone","volume":"10","author":"New","year":"2010","journal-title":"Am. J. Bioeth."},{"issue":"5","key":"10.1016\/j.jsbmb.2016.06.015_bib0490","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.ajog.2012.10.885","article-title":"Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits","volume":"205","author":"Miller","year":"2013","journal-title":"Am. J. Obstet. Gynecol."},{"issue":"13","key":"10.1016\/j.jsbmb.2016.06.015_bib0495","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1056\/NEJMoa032089","article-title":"Outcomes at school age after postnatal dexamethasone therapy for lung disease of prematurity","volume":"350","author":"Yeh","year":"2004","journal-title":"N. Engl. J. Med."},{"issue":"6","key":"10.1016\/j.jsbmb.2016.06.015_bib0500","doi-asserted-by":"crossref","first-page":"637","DOI":"10.4103\/1673-5374.130096","article-title":"Effect of dexamethasone on intelligence and hearing in preterm infants: a meta-analysis","volume":"9","author":"Zhang","year":"2014","journal-title":"Neural Regen. Res."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0505","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S0165-3806(98)00115-1","article-title":"Glucocorticoid administration alters nuclear transcription factors in fetal rat brain: implications for the use of antenatal steroids","volume":"111","author":"Slotkin","year":"1998","journal-title":"Brain Res. Dev. Brain Res."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0510","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/S0306-4522(01)00065-3","article-title":"Prenatal glucocorticoid programming of brain corticosteroid receptors and corticotropin releasing hormone: possible implications for behaviour","volume":"104","author":"Welberg","year":"2001","journal-title":"Neuroscience"},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0515","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/978-1-4419-8002-1_7","article-title":"Long range outcome of prenatal treatment","volume":"707","author":"New","year":"2011","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0520","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1080\/09297049.2012.745495","article-title":"Cognitive and social function in girls with congenital adrenal hyperplasia-influence of prenatally administered dexamethasone","volume":"20","author":"Maryniak","year":"2014","journal-title":"Child Neuopsychol."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0525","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1530\/EJE-11-0789","article-title":"Cognitive outcome of offspring from dexamethasone treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"167","author":"Meyer-Bahlburg","year":"2012","journal-title":"Eur. J. Endocrinol."},{"issue":"2","key":"10.1016\/j.jsbmb.2016.06.015_bib0530","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1210\/jc.2006-1340","article-title":"Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone","volume":"92","author":"Hirvikoski","year":"2007","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0535","first-page":"84 pp.","article-title":"Long term cognitive effects of antenatal dexamethasone treatment in Swedish adolescents with and without CAH [abstract]","volume":"82","author":"Wallensteen","year":"2015","journal-title":"Horm. Res. Paediatr."},{"issue":"9","key":"10.1016\/j.jsbmb.2016.06.015_bib0540","doi-asserted-by":"crossref","first-page":"4133","DOI":"10.1210\/jc.2009-2631","article-title":"Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline","volume":"95","author":"Speiser","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0545","doi-asserted-by":"crossref","first-page":"892","DOI":"10.1016\/S0022-3476(05)80128-3","article-title":"Cortisol production rate in childhood and adolescence","volume":"117","author":"Linder","year":"1990","journal-title":"J. Pediatr."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0550","first-page":"164","article-title":"Update on treatment strategies for optimization of final adult height in children with congenital adrenal hyperplasia","volume":"10","author":"Javed","year":"2012","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0555","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1067\/mpd.2001.110527","article-title":"Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis","volume":"138","author":"Eugster","year":"2001","journal-title":"J. Pediatr."},{"issue":"8","key":"10.1016\/j.jsbmb.2016.06.015_bib0560","doi-asserted-by":"crossref","first-page":"3679","DOI":"10.1210\/jc.2003-032051","article-title":"Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short term, high intensity exercise","volume":"89","author":"Weise","year":"2004","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"3","key":"10.1016\/j.jsbmb.2016.06.015_bib0565","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1210\/jcem-45-3-500","article-title":"The interrelationship of sodium balance, plasma renin activity and ACTH in congenital adrenal hyperplasia","volume":"45","author":"Rosler","year":"1977","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0570","doi-asserted-by":"crossref","first-page":"54","DOI":"10.3389\/fped.2013.00054","article-title":"Should the genitoplasty of girls with CAH be done in one or two stages?","volume":"1","author":"Gonzalez","year":"2014","journal-title":"Front. Pediatr."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0575","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1159\/000363664","article-title":"Timing of surgery for feminizing genitoplasty in patients suffering from congenital adrenal hyperplasia","volume":"27","author":"Eckoldt-Wolke","year":"2014","journal-title":"Endocr. Dev."},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0580","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1055\/s-0029-1233490","article-title":"Congenital adrenal hyperplasia: a critical appraisal of the evolution of feminizing genitoplasty and the controversies surrounding gender reassignment","volume":"19","author":"Braga","year":"2009","journal-title":"Eur. J. Pediatr. Surg."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0585","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1111\/j.1464-410X.2004.04572.x","article-title":"Genital sensation after feminizing genitoplasty for congenital adrenal hyperplasia: a pilot study","volume":"93","author":"Crouch","year":"2004","journal-title":"BJU Int."},{"issue":"2","key":"10.1016\/j.jsbmb.2016.06.015_bib0590","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/j.juro.2007.09.079","article-title":"Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia","volume":"179","author":"Crouch","year":"2008","journal-title":"J. Urol."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0595","doi-asserted-by":"crossref","first-page":"3633","DOI":"10.1210\/jc.2009-2639","article-title":"Sexual function and surgical outcome in woman with congenital adrenal hyperplasia due to CYP21A2 deficency: clinical perspective and the patients\u2019 perception","volume":"95","author":"Nordenstrom","year":"2010","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"10.1016\/j.jsbmb.2016.06.015_bib0600","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.jpag.2012.08.004","article-title":"Research on quality of life in female patients with congenital adrenal hyperplasia and issues in developing nations","volume":"26","author":"Zainuddin","year":"2013","journal-title":"J. Pediatr. Adolesc. Gynecol."},{"issue":"4","key":"10.1016\/j.jsbmb.2016.06.015_bib0605","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s10508-005-4338-5","article-title":"Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia","volume":"34","author":"Dessens","year":"2005","journal-title":"Arch. Sex. Behav."},{"issue":"5","key":"10.1016\/j.jsbmb.2016.06.015_bib0610","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1007\/s10508-014-0385-0","article-title":"Increased cross gender identification independent of gender role behavior in girls with congenital adrenal hyperplasia: results from a standerdized assessment of 4\u201311year old children","volume":"44","author":"Pasterski","year":"2015","journal-title":"Arch. Sex. Behav."},{"issue":"2","key":"10.1016\/j.jsbmb.2016.06.015_bib0615","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1023\/B:ASEB.0000014324.25718.51","article-title":"Prenatal androgenization affects gender-related behavior but not gender identity in 5\u201312year old girls with congenital adrenal hyperplasia","volume":"33","author":"Meyer-Bahlburg","year":"2004","journal-title":"Arch. Sex. Behav."},{"issue":"1","key":"10.1016\/j.jsbmb.2016.06.015_bib0620","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1080\/00224490409552215","article-title":"Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH)","volume":"41","author":"Hines","year":"2004","journal-title":"J. Sex Res."},{"issue":"7","key":"10.1016\/j.jsbmb.2016.06.015_bib0625","doi-asserted-by":"crossref","first-page":"2993","DOI":"10.1210\/jc.2002-022026","article-title":"The role of bilateral adrenalectomy in the treatment of congenital adrenal hyperplasia","volume":"88","author":"Van Wyk","year":"2003","journal-title":"J. Clin. Endocrinol. Metab."},{"issue":"2","key":"10.1016\/j.jsbmb.2016.06.015_bib0630","doi-asserted-by":"crossref","first-page":"E28","DOI":"10.1542\/peds.109.2.e28","article-title":"Bilateral laproscopic adrenalectomy as a treatment for classic congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency","volume":"109","author":"Gmyrek","year":"2002","journal-title":"Pediatrics"},{"issue":"3","key":"10.1016\/j.jsbmb.2016.06.015_bib0635","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1056\/NEJM199101173240302","article-title":"Aldosterone synthesis in salt wasting congenital adrenal hyperplasia with complete absence of adrenal 21-hydroxylase","volume":"324","author":"Speiser","year":"1991","journal-title":"N. Engl. J. Med."}],"container-title":["The Journal of Steroid Biochemistry and Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960076016301984?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960076016301984?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T23:53:53Z","timestamp":1760745233000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960076016301984"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":127,"alternative-id":["S0960076016301984"],"URL":"https:\/\/doi.org\/10.1016\/j.jsbmb.2016.06.015","relation":{},"ISSN":["0960-0760"],"issn-type":[{"value":"0960-0760","type":"print"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia","name":"articletitle","label":"Article Title"},{"value":"The Journal of Steroid Biochemistry and Molecular Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jsbmb.2016.06.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}