{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T08:51:01Z","timestamp":1792399861668,"version":"4.4.0"},"reference-count":108,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T00:00:00Z","timestamp":1533081600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,8,1]],"date-time":"2018-08-01T00:00:00Z","timestamp":1533081600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"published-print":{"date-parts":[[2018,8]]},"DOI":"10.1016\/j.beem.2018.05.010","type":"journal-article","created":{"date-parts":[[2018,6,6]],"date-time":"2018-06-06T13:02:43Z","timestamp":1528290163000},"page":"397-424","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":63,"title":["Primary adrenal insufficiency in children: Diagnosis and management"],"prefix":"10.1016","volume":"32","author":[{"given":"Tarik","family":"Kirkgoz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tulay","family":"Guran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.beem.2018.05.010_bib1","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1210\/jc.2015-1710","article-title":"Diagnosis and treatment of primary adrenal insufficiency: an endocrine society clinical practice guideline","volume":"101","author":"Bornstein","year":"2016","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib2","doi-asserted-by":"crossref","first-page":"2194","DOI":"10.1016\/S0140-6736(17)31431-9","article-title":"Congenital adrenal hyperplasia","volume":"390","author":"El-Maouche","year":"2017","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2018.05.010_bib3","doi-asserted-by":"crossref","first-page":"3243","DOI":"10.1210\/jc.2004-0016","article-title":"Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal","volume":"90","author":"Perry","year":"2005","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib4","first-page":"96","article-title":"Presentation of primary adrenal insufficiency in childhood","author":"Hsieh","year":"2011","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib5","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1210\/jc.2015-3250","article-title":"Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort","volume":"101","author":"Guran","year":"2016","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib6","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1530\/EJE-17-0027","article-title":"Genetic defects in pediatric-onset adrenal insufficiency in Japan","volume":"177","author":"Amano","year":"2017","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib7","doi-asserted-by":"crossref","first-page":"2086","DOI":"10.1210\/me.2009-0056","article-title":"Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism","volume":"23","author":"Storr","year":"2009","journal-title":"Mol Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib8","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1038\/ng.2275","article-title":"Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome","volume":"44","author":"Arboleda","year":"2012","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2018.05.010_bib9","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1172\/JCI60224","article-title":"MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans","volume":"122","author":"Hughes","year":"2012","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.beem.2018.05.010_bib10","first-page":"99","article-title":"Thioredoxin reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD)","author":"Prasad","year":"2014","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib11","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1038\/ng.3569","article-title":"SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7","volume":"48","author":"Narumi","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.beem.2018.05.010_bib12","first-page":"127","article-title":"Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome","author":"Prasad","year":"2017","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.beem.2018.05.010_bib13","article-title":"NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice","author":"Meimaridou","year":"2017","journal-title":"J\u00a0Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib14","doi-asserted-by":"crossref","first-page":"5110","DOI":"10.1210\/jc.2010-0917","article-title":"Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients","volume":"95","author":"Arlt","year":"2010","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib15","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1530\/EJE-13-0128","article-title":"Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)","volume":"168","author":"Han","year":"2013","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib16","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1038\/nrendo.2013.239","article-title":"Treatment and health outcomes in adults with congenital adrenal hyperplasia","volume":"10","author":"Han","year":"2014","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib17","doi-asserted-by":"crossref","first-page":"2763","DOI":"10.1210\/jc.2014-1258","article-title":"Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency","volume":"99","author":"Auchus","year":"2014","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib18","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1210\/jc.2014-3809","article-title":"A\u00a0phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia","volume":"100","author":"Mallappa","year":"2015","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib19","doi-asserted-by":"crossref","first-page":"4690","DOI":"10.1210\/jc.2016-1916","article-title":"A\u00a0phase 2 study of continuous subcutaneous hydrocortisone infusion in adults with congenital adrenal hyperplasia","volume":"101","author":"Nella","year":"2016","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib20","doi-asserted-by":"crossref","first-page":"1174","DOI":"10.1210\/jc.2015-3574","article-title":"Single-dose study of a corticotropin-releasing factor receptor-1 antagonist in women with 21-hydroxylase deficiency","volume":"101","author":"Turcu","year":"2016","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib21","first-page":"1797","article-title":"Modified-release and conventional glucocorticoids and diurnal androgen excretion in congenital adrenal hyperplasia","volume":"102","author":"Jones","year":"2017","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib22","article-title":"Absorption and tolerability of taste-masked hydrocortisone granules in neonates, infants and children under 6 years of age with adrenal insufficiency","author":"Neumann","year":"2017","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.beem.2018.05.010_bib23","doi-asserted-by":"crossref","first-page":"52","DOI":"10.3389\/fendo.2017.00052","article-title":"Molecular mechanisms of stem\/progenitor cell maintenance in the adrenal cortex","volume":"8","author":"Lerario","year":"2017","journal-title":"Front Endocrinol (Lausanne)"},{"key":"10.1016\/j.beem.2018.05.010_bib24","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/S0005-8165(73)80086-1","article-title":"The prepuberal and puberal growth of the adrenal (adrenarche)","volume":"150","author":"Dhom","year":"1973","journal-title":"Beitr Pathol"},{"key":"10.1016\/j.beem.2018.05.010_bib25","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1677\/JOE-09-0127","article-title":"Development of the human adrenal zona reticularis: morphometric and immunohistochemical studies from birth to adolescence","volume":"203","author":"Hui","year":"2009","journal-title":"J\u00a0Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib26","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/S0378-3782(03)00074-4","article-title":"Development of cortisol circadian rhythm in infancy","volume":"73","author":"De Weerth","year":"2003","journal-title":"Early Hum Dev"},{"key":"10.1016\/j.beem.2018.05.010_bib27","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1016\/S0039-128X(98)00112-3","article-title":"Cortisol production rate measurement by stable isotope dilution using gas chromatography-negative ion chemical ionization mass spectrometry","volume":"64","author":"Brandon","year":"1999","journal-title":"Steroids"},{"key":"10.1016\/j.beem.2018.05.010_bib28","doi-asserted-by":"crossref","DOI":"10.1136\/archdischild-2015-309538","article-title":"Is physiological glucocorticoid replacement important in children?","author":"Porter","year":"2017","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.beem.2018.05.010_bib29","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.peptides.2012.01.023","article-title":"Local renin-angiotensin systems in the adrenal gland","volume":"34","author":"Peters","year":"2012","journal-title":"Peptides"},{"key":"10.1016\/j.beem.2018.05.010_bib30","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1111\/j.1440-1754.2004.00482.x","article-title":"Primary adrenal insufficiency in childhood and adolescence: advances in diagnosis and management","volume":"40","author":"Simm","year":"2004","journal-title":"J\u00a0Paediatr Child Health"},{"key":"10.1016\/j.beem.2018.05.010_bib31","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1136\/archdischild-2015-308799","article-title":"The diagnosis and treatment of adrenal insufficiency during childhood and adolescence","volume":"101","author":"Park","year":"2016","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.beem.2018.05.010_bib32","doi-asserted-by":"crossref","first-page":"2152","DOI":"10.1016\/S0140-6736(13)61684-0","article-title":"Adrenal insufficiency","volume":"383","author":"Charmandari","year":"2014","journal-title":"Lancet"},{"key":"10.1016\/j.beem.2018.05.010_bib33","doi-asserted-by":"crossref","DOI":"10.1007\/s12020-016-1204-2","article-title":"Adrenal crises: perspectives and research directions","author":"Rushworth","year":"2017","journal-title":"Endocrine"},{"key":"10.1016\/j.beem.2018.05.010_bib34","first-page":"245","article-title":"Congenital adrenal hyperplasia due to 21-hydroxylase deficiency","volume":"21","author":"White","year":"2000","journal-title":"Endocr Rev"},{"key":"10.1016\/j.beem.2018.05.010_bib35","first-page":"1544","article-title":"The etiologies of adrenal insufficiency in 73 Thai children: 20 years experience","volume":"91","author":"Osuwannaratana","year":"2008","journal-title":"J\u00a0Med Assoc Thai"},{"key":"10.1016\/j.beem.2018.05.010_bib36","doi-asserted-by":"crossref","DOI":"10.1016\/j.ecl.2017.01.008","article-title":"Genetics of congenital adrenal hyperplasia","author":"Hannah-Shmouni","year":"2017","journal-title":"Endocrinol Metab Clin N Am"},{"key":"10.1016\/j.beem.2018.05.010_bib37","doi-asserted-by":"crossref","first-page":"E1933","DOI":"10.1073\/pnas.1621082114","article-title":"Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11\u03b2-hydroxylase deficiency","volume":"114","author":"Khattab","year":"2017","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.beem.2018.05.010_bib38","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1136\/adc.59.11.1092","article-title":"Salt loss in congenital adrenal hyperplasia due to 11 \u03b2-hydroxylase deficiency","volume":"59","author":"Hochberg","year":"1984","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.beem.2018.05.010_bib39","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/j.jpeds.2014.04.011","article-title":"Reduced activity of 11\u03b2-hydroxylase accounts for elevated 17\u03b1-hydroxyprogesterone in preterms","volume":"165","author":"Kamrath","year":"2014","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.beem.2018.05.010_bib40","doi-asserted-by":"crossref","first-page":"3048","DOI":"10.1210\/jc.2006-0603","article-title":"Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience","volume":"91","author":"Lin","year":"2006","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib41","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.beem.2015.07.004","article-title":"DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease","volume":"29","author":"Suntharalingham","year":"2015","journal-title":"Best Pract Res Clin Endocrinol Metabol"},{"key":"10.1016\/j.beem.2018.05.010_bib42","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1515\/jpem-2012-0086","article-title":"A\u00a0novel DAX-1 mutation presented with precocious puberty and hypogonadotropic hypogonadism in different members of a large pedigree","volume":"26","author":"Durmaz","year":"2013","journal-title":"J\u00a0Pediatr Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib43","first-page":"4501","article-title":"X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females","volume":"84","author":"Seminara","year":"1999","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib44","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1056\/NEJM199904223401605","article-title":"Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene","volume":"340","author":"Merke","year":"1999","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.010_bib45","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1016\/j.fertnstert.2012.10.026","article-title":"NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency","volume":"99","author":"Philibert","year":"2013","journal-title":"Fertil Steril"},{"key":"10.1016\/j.beem.2018.05.010_bib46","doi-asserted-by":"crossref","first-page":"2487","DOI":"10.1002\/ajmg.a.36084","article-title":"Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure","volume":"161","author":"Harrison","year":"2013","journal-title":"Am J Med Genet Part A"},{"key":"10.1016\/j.beem.2018.05.010_bib47","doi-asserted-by":"crossref","first-page":"3446","DOI":"10.1093\/hmg\/ddw186","article-title":"A\u00a0recurrent p.Arg92Trp variant in steroidogenic factor- 1 (NR5A1) can act as a molecular switch in human sex development","volume":"25","author":"Bashamboo","year":"2015","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.beem.2018.05.010_bib48","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/gim.2016.118","article-title":"NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development","volume":"19","author":"Baetens","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.beem.2018.05.010_bib49","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1111\/cge.12957","article-title":"SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management","volume":"92","author":"Colson","year":"2017","journal-title":"Clin Genet"},{"key":"10.1016\/j.beem.2018.05.010_bib50","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1111\/j.1365-2265.2009.03663.x","article-title":"Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2","volume":"72","author":"Chung","year":"2010","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.beem.2018.05.010_bib51","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3390\/ijns2040015","article-title":"Newborn Screening for X-Linked Adrenoleukodystrophy","volume":"2","author":"Moser","year":"2016","journal-title":"Int J Neonatal Screen"},{"key":"10.1016\/j.beem.2018.05.010_bib52","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1038\/nrendo.2016.90","article-title":"Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history","volume":"12","author":"Kemp","year":"2016","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib53","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.jpeds.2004.10.067","article-title":"Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screening","volume":"146","author":"Dubey","year":"2005","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.beem.2018.05.010_bib54","doi-asserted-by":"crossref","first-page":"2005","DOI":"10.1093\/hmg\/ddq082","article-title":"Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy","volume":"19","author":"Fourcade","year":"2010","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.beem.2018.05.010_bib55","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1007\/s10545-012-9471-4","article-title":"Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation","volume":"35","author":"Engelen","year":"2012","journal-title":"J\u00a0Inherit Metab Dis"},{"key":"10.1016\/j.beem.2018.05.010_bib56","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1111\/jnc.12992","article-title":"ABCD1 deletion-induced mitochondrial dysfunction is corrected by SAHA: implication for adrenoleukodystrophy","volume":"133","author":"Baarine","year":"2015","journal-title":"J\u00a0Neurochem"},{"key":"10.1016\/j.beem.2018.05.010_bib57","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1007\/s40263-015-0300-9","article-title":"Mechanisms of antioxidant induction with high-dose N-Acetylcysteine in childhood cerebral adrenoleukodystrophy","volume":"29","author":"Kartha","year":"2015","journal-title":"CNS Drugs"},{"key":"10.1016\/j.beem.2018.05.010_bib58","doi-asserted-by":"crossref","DOI":"10.1056\/NEJMoa1700554","article-title":"Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy","author":"Eichler","year":"2017","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.beem.2018.05.010_bib59","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1038\/gim.2016.68","article-title":"Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation","volume":"19","author":"Kemper","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.beem.2018.05.010_bib60","series-title":"Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy","author":"Huffnagel","year":"2017"},{"key":"10.1016\/j.beem.2018.05.010_bib61","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1007\/s00431-012-1745-1","article-title":"Long-term clinical follow-up and molecular genetic findings in eight patients with triple a syndrome","volume":"171","author":"Dumic","year":"2012","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.beem.2018.05.010_bib62","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1016\/j.arcmed.2016.04.004","article-title":"Clinical and genetic characterization of 26 tunisian patients with Allgrove syndrome","volume":"47","author":"Kallabi","year":"2016","journal-title":"Arch Med Res"},{"key":"10.1016\/j.beem.2018.05.010_bib63","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1007\/s00431-010-1222-7","article-title":"Triple A syndrome: 32 years experience of a single centre (1977-2008)","volume":"169","author":"Milenkovic","year":"2010","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.beem.2018.05.010_bib64","article-title":"Triple-A syndrome: a wide spectrum of adrenal dysfunction","author":"Roucher-Boulez","year":"2017","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib65","doi-asserted-by":"crossref","DOI":"10.1007\/s12020-012-9835-4","article-title":"Therapy of adrenal insufficiency: an update","author":"Falorni","year":"2013","journal-title":"Endocrine"},{"key":"10.1016\/j.beem.2018.05.010_bib66","doi-asserted-by":"crossref","first-page":"3546","DOI":"10.1210\/jc.2017-00139","article-title":"Expanding the phenotypic and genotypic landscape of autoimmune polyendocrine syndrome type 1","volume":"102","author":"Orlova","year":"2017","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib67","doi-asserted-by":"crossref","first-page":"4882","DOI":"10.1210\/jc.2009-1368","article-title":"Clinical, immunological, and genetic features of autoimmune primary adrenal insufficiency: observations from a Norwegian registry","volume":"94","author":"Erichsen","year":"2009","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib68","article-title":"The immunobiology and clinical features of type 1 autoimmune polyglandular syndrome (APS-1)","author":"Guo","year":"2017","journal-title":"Autoimmun Rev"},{"key":"10.1016\/j.beem.2018.05.010_bib69","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/nrendo.2016.151","article-title":"Mitochondrial disease and endocrine dysfunction","volume":"13","author":"Chow","year":"2017","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib70","first-page":"289","article-title":"IMAGe and related undergrowth syndromes: the complex spectrum of gain-of-function CDKN1C mutations","volume":"14","author":"Cabrera-Salcedo","year":"2017","journal-title":"Pediatr Endocrinol Rev"},{"key":"10.1016\/j.beem.2018.05.010_bib71","doi-asserted-by":"crossref","first-page":"1700","DOI":"10.1172\/JCI91913","article-title":"Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans","volume":"127","author":"Buonocore","year":"2017","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.beem.2018.05.010_bib72","first-page":"127","article-title":"Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome","author":"Prasad","year":"2017","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.beem.2018.05.010_bib73","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1172\/JCI89626","article-title":"Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency","volume":"127","author":"Lovric","year":"2017","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.beem.2018.05.010_bib74","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/humu.23192","article-title":"Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications","volume":"38","author":"Janecke","year":"2017","journal-title":"Hum Mutat"},{"key":"10.1016\/j.beem.2018.05.010_bib75","doi-asserted-by":"crossref","first-page":"4245","DOI":"10.1210\/jc.2008-0710","article-title":"Corticotropin tests for hypothalamic-pituitary- adrenal insufficiency: a metaanalysis","volume":"93","author":"Kazlauskaite","year":"2008","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib76","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1111\/j.1365-2265.2007.03100.x","article-title":"Evaluation of adrenal function using the human corticotrophin-releasing hormone test, low dose Synacthen test and 9am cortisol level in children and adolescents with central adrenal insufficiency","volume":"68","author":"Maguire","year":"2008","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.beem.2018.05.010_bib77","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1111\/cen.12302","article-title":"Early morning salivary cortisol and cortisone, and adrenal responses to a simplified low-dose short Synacthen test in children with asthma","volume":"80","author":"Blair","year":"2014","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.beem.2018.05.010_bib78","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1177\/0004563215577838","article-title":"Salivary cortisol and cortisone responses to tetracosactrin (synacthen)","volume":"52","author":"Cornes","year":"2015","journal-title":"Ann Clin Biochem"},{"key":"10.1016\/j.beem.2018.05.010_bib79","article-title":"Use of salivary cortisol and cortisone in the high- and low-dose synacthen test","author":"Elder","year":"2017","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.beem.2018.05.010_bib80","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1046\/j.1365-2265.2000.01028.x","article-title":"Establishment of reference values for standard dose short synacthen test (250 \u03bcg), low dose short synacthen test (1 \u03bcg) and insulin tolerance test for assessment of the hypothalamo-pituitary-adrenal axis in normal subjects","volume":"53","author":"Gonz\u00e1lbez","year":"2000","journal-title":"Clin Endocrinol (Oxf)"},{"key":"10.1016\/j.beem.2018.05.010_bib81","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1136\/adc.59.4.360","article-title":"Plasma renin activity in the management of congenital adrenal hyperplasia","volume":"59","author":"Griffiths","year":"1984","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.beem.2018.05.010_bib82","doi-asserted-by":"crossref","DOI":"10.1373\/clinchem.2010.146035","article-title":"Monitoring of therapy in congenital adrenal hyperplasia","author":"Dauber","year":"2010","journal-title":"Clin Chem"},{"key":"10.1016\/j.beem.2018.05.010_bib83","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.cca.2009.09.018","article-title":"Pre-analytical and analytical considerations for the determination of plasma renin activity","volume":"410","author":"Brossaud","year":"2009","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.beem.2018.05.010_bib84","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s11306-013-0558-1","article-title":"Precursor-to-product ratios reflect biochemical phenotype in congenital adrenal hyperplasia","volume":"10","author":"Hicks","year":"2014","journal-title":"Metabolomics"},{"key":"10.1016\/j.beem.2018.05.010_bib85","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1016\/j.jsbmb.2010.04.010","article-title":"Gas chromatography\/mass spectrometry (GC\/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC\/MS\/MS)","volume":"121","author":"Krone","year":"2010","journal-title":"J\u00a0Steroid Biochem Mol Biol"},{"key":"10.1016\/j.beem.2018.05.010_bib86","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1210\/er.2010-0013","article-title":"The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders","volume":"32","author":"Miller","year":"2011","journal-title":"Endocr Rev"},{"key":"10.1016\/j.beem.2018.05.010_bib87","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1159\/000441843","article-title":"Primary adrenocortical insufficiency case series: genetic etiologies more common than expected","volume":"85","author":"Tsai","year":"2016","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.beem.2018.05.010_bib88","first-page":"6","article-title":"Whole-exome sequencing in the differential diagnosis of primary adrenal insufficiency in children","author":"Chan","year":"2015","journal-title":"Front Endocrinol (Lausanne)"},{"key":"10.1016\/j.beem.2018.05.010_bib89","doi-asserted-by":"crossref","first-page":"3882","DOI":"10.1210\/jc.2009-0942","article-title":"Hydrocortisone dosing during puberty in patients with classical congenital adrenal hyperplasia: an evidence-based recommendation","volume":"94","author":"Bonfig","year":"2009","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib90","first-page":"127","article-title":"Molecular genetics of hypothalamic-pituitary-adrenal axis activity and function","volume":"1220","author":"Mormede","year":"2011","journal-title":"Trends Neuroendocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib91","doi-asserted-by":"crossref","first-page":"e164","DOI":"10.1542\/peds.2006-2558","article-title":"Prolonged hypocortisolemia in hydrocortisone replacement regimens in adrenocorticotrophic hormone deficiency","volume":"120","author":"Maguire","year":"2007","journal-title":"Pediatrics"},{"key":"10.1016\/j.beem.2018.05.010_bib92","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1097\/MED.0000000000000256","article-title":"Novel treatment strategies in congenital adrenal hyperplasia","volume":"23","author":"Turcu","year":"2016","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"key":"10.1016\/j.beem.2018.05.010_bib93","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1210\/jc.2013-4253","article-title":"Continuous subcutaneous hydrocortisone infusion versus oral hydrocortisone replacement for treatment of addison's disease: a randomized clinical trial","volume":"99","author":"Oksnes","year":"2014","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib94","doi-asserted-by":"crossref","first-page":"17","DOI":"10.4158\/EP161428.OR","article-title":"Glucocorticoid replacement regimens in chronic adrenal insufficiency: a systematic review and meta-analysis","volume":"23","author":"Al Nofal","year":"2017","journal-title":"Endocr Pract"},{"key":"10.1016\/j.beem.2018.05.010_bib95","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1530\/EJE-09-0170","article-title":"Improving glucocorticoid replacement therapy using a novel modified-release hydrocortisone tablet: a pharmacokinetic study","volume":"161","author":"Johannsson","year":"2009","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib96","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1210\/jc.2011-1926","article-title":"Improved cortisol exposure-time profile and outcome in patients with adrenal insufficiency: a prospective randomized trial of a novel hydrocortisone dual-release formulation","volume":"97","author":"Johannsson","year":"2012","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib97","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1007\/s12020-015-0681-z","article-title":"Improvement of anthropometric and metabolic parameters, and quality of life following treatment with dual-release hydrocortisone in patients with Addison's disease","volume":"51","author":"Giordano","year":"2016","journal-title":"Endocrine"},{"key":"10.1016\/j.beem.2018.05.010_bib98","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1530\/EJE-17-0067","article-title":"Long-Term safety of once-daily, dual-release hydrocortisone in patients with adrenal insufficiency: a phase 3b, open-label, extension study","volume":"176","author":"Nilsson","year":"2017","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib99","article-title":"Effect of once-daily, modified-release hydrocortisone versus standard glucocorticoid therapy on metabolism and innate immunity in patients with adrenal insufficiency (DREAM): a single-blind, randomised controlled trial","author":"Isidori","year":"2017","journal-title":"Lancet Diabetes Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib100","doi-asserted-by":"crossref","first-page":"339e1","DOI":"10.1016\/j.amjmed.2015.08.021","article-title":"Adrenal crisis: still a deadly event in the 21st century","volume":"129","author":"Puar","year":"2016","journal-title":"Am J Med"},{"key":"10.1016\/j.beem.2018.05.010_bib101","doi-asserted-by":"crossref","first-page":"e484","DOI":"10.1542\/peds.2006-1612","article-title":"Adrenal insufficiency: still a cause of morbidity and death in childhood","volume":"119","author":"Shulman","year":"2007","journal-title":"Pediatrics"},{"key":"10.1016\/j.beem.2018.05.010_bib102","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1210\/jc.2017-01928","article-title":"Primary adrenal insufficiency: managing mineralocorticoid replacement therapy","volume":"103","author":"Esposito","year":"2018","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib103","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.beem.2014.09.007","article-title":"Is DHEA replacement beneficial in chronic adrenal failure?","volume":"29","author":"Lang","year":"2015","journal-title":"Best Pract Res Clin Endocrinol Metabol"},{"key":"10.1016\/j.beem.2018.05.010_bib104","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1210\/jc.2008-1982","article-title":"Effects of dehydroepiandrosterone therapy on pubic hair growth and psychological well-being in adolescent girls and young women with central adrenal insufficiency: a double-blind, randomized, placebo-controlled phase III trial","volume":"94","author":"Binder","year":"2009","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib105","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.mce.2015.01.039","article-title":"Management considerations for the adult with congenital adrenal hyperplasia","volume":"408","author":"Auchus","year":"2015","journal-title":"Mol Cell Endocrinol"},{"key":"10.1016\/j.beem.2018.05.010_bib106","doi-asserted-by":"crossref","first-page":"1174","DOI":"10.1210\/jc.2015-3574","article-title":"Single-dose study of a corticotropin-releasing factor receptor-1 antagonist in women with 21-hydroxylase deficiency","volume":"101","author":"Turcu","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.beem.2018.05.010_bib107","doi-asserted-by":"crossref","first-page":"2527","DOI":"10.1073\/pnas.1500242112","article-title":"Transplantation of bovine adrenocortical cells encapsulated in alginate","volume":"112","author":"Balyura","year":"2015","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.beem.2018.05.010_bib108","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1210\/en.2017-03061","article-title":"Sonic Hedgehog and WNT signaling promote adrenal gland regeneration in male mice","volume":"159","author":"Finco","year":"2018","journal-title":"Endocrinology"}],"container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X18300782?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X18300782?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:53:34Z","timestamp":1761497614000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X18300782"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8]]},"references-count":108,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,8]]}},"alternative-id":["S1521690X18300782"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2018.05.010","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2018,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Primary adrenal insufficiency in children: Diagnosis and management","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.beem.2018.05.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}